Canonical Allele Identifier: CA1113746060

Gene: SNTG1

Linked Data

• dbSNP Id: rs2093660113
• gnomAD v3: 8-50472350-T-C
• gnomAD v4: 8-50472350-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.50472350T>C , CM000670.2:g.50472350T>C	GRCh38
NC_000008.10:g.51384910T>C , CM000670.1:g.51384910T>C	GRCh37
NC_000008.9:g.51547463T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642164.1:c.228+21621T>C	ENSP00000494929.1:n.228+21621T>C
ENST00000642286.1:c.*127+21621T>C	ENSP00000493658.1:n.*127+21621T>C
ENST00000642525.1:c.163-30428T>C	ENSP00000494985.1:n.163-30428T>C
ENST00000642720.2:c.363+21621T>C MANE Select	ENSP00000493900.1:n.363+21621T>C
ENST00000642826.1:c.363+21621T>C	ENSP00000494442.1:n.363+21621T>C
ENST00000643740.1:c.363+21621T>C	ENSP00000496330.1:n.363+21621T>C
ENST00000643809.1:c.28-30428T>C	ENSP00000495550.1:n.28-30428T>C
ENST00000643999.1:c.306+21621T>C	ENSP00000495470.1:n.306+21621T>C
ENST00000644093.1:c.363+21621T>C	ENSP00000494759.1:n.363+21621T>C
ENST00000644469.1:c.363+21621T>C	ENSP00000496525.1:n.363+21621T>C
ENST00000644723.1:c.363+21621T>C	ENSP00000496116.1:n.363+21621T>C
ENST00000646880.1:c.162+70006T>C	ENSP00000495100.1:n.162+70006T>C
ENST00000647073.1:c.363+21621T>C	ENSP00000496147.1:n.363+21621T>C
ENST00000647273.1:c.363+21621T>C	ENSP00000494713.1:n.363+21621T>C
ENST00000276467.8:c.363+21621T>C	ENSP00000276467.5:n.363+21621T>C
ENST00000517473.5:c.363+21621T>C	ENSP00000431123.1:n.363+21621T>C
ENST00000518864.5:c.363+21621T>C	ENSP00000429276.1:n.363+21621T>C
ENST00000520825.5:c.363+21621T>C	ENSP00000428558.1:n.363+21621T>C
ENST00000522124.5:c.363+21621T>C	ENSP00000429842.1:n.363+21621T>C
ENST00000620202.2:c.363+21621T>C	ENSP00000483474.1:n.363+21621T>C
NM_001287813.1:c.363+21621T>C	NP_001274742.1:n.363+21621T>C
NM_001287814.1:c.363+21621T>C	NP_001274743.1:n.363+21621T>C
NM_018967.3:c.363+21621T>C	NP_061840.1:n.363+21621T>C
XM_006716456.1:c.363+21621T>C	XP_006716519.1:n.363+21621T>C
XM_011517545.1:c.363+21621T>C	XP_011515847.1:n.363+21621T>C
XM_011517546.1:c.363+21621T>C	XP_011515848.1:n.363+21621T>C
XM_011517547.1:c.363+21621T>C	XP_011515849.1:n.363+21621T>C
XM_011517548.1:c.228+21621T>C	XP_011515850.1:n.228+21621T>C
XM_011517550.1:c.363+21621T>C	XP_011515852.1:n.363+21621T>C
NM_001287813.2:c.363+21621T>C	NP_001274742.1:n.363+21621T>C
NM_001287814.2:c.363+21621T>C	NP_001274743.1:n.363+21621T>C
NM_001321773.1:c.363+21621T>C	NP_001308702.1:n.363+21621T>C
NM_001321775.1:c.363+21621T>C	NP_001308704.1:n.363+21621T>C
NM_001321776.1:c.363+21621T>C	NP_001308705.1:n.363+21621T>C
NM_001321777.1:c.363+21621T>C	NP_001308706.1:n.363+21621T>C
NM_001321778.1:c.363+21621T>C	NP_001308707.1:n.363+21621T>C
NM_018967.4:c.363+21621T>C	NP_061840.1:n.363+21621T>C
NR_135794.1:n.1004+21621T>C
NR_135795.1:n.1024+21621T>C
NR_135796.1:n.1024+21621T>C
NR_135797.1:n.1004+21621T>C
NR_135798.1:n.949+21621T>C
XM_011517548.2:c.228+21621T>C	XP_011515850.1:n.228+21621T>C
XM_017013579.1:c.363+21621T>C	XP_016869068.1:n.363+21621T>C
XM_017013580.2:c.363+21621T>C	XP_016869069.1:n.363+21621T>C
XM_017013581.1:c.363+21621T>C	XP_016869070.1:n.363+21621T>C
XM_017013582.1:c.363+21621T>C	XP_016869071.1:n.363+21621T>C
XM_024447183.1:c.363+21621T>C	XP_024302951.1:n.363+21621T>C
NM_018967.5:c.363+21621T>C MANE Select	NP_061840.1:n.363+21621T>C
NM_001287813.3:c.363+21621T>C	NP_001274742.1:n.363+21621T>C
NM_001287814.3:c.363+21621T>C	NP_001274743.1:n.363+21621T>C
NM_001321773.2:c.363+21621T>C	NP_001308702.1:n.363+21621T>C
NM_001321775.2:c.363+21621T>C	NP_001308704.1:n.363+21621T>C
NM_001321776.2:c.363+21621T>C	NP_001308705.1:n.363+21621T>C
NM_001321777.2:c.363+21621T>C	NP_001308706.1:n.363+21621T>C
NR_135794.2:n.1270+21621T>C
NR_135795.2:n.1290+21621T>C
NR_135796.2:n.1290+21621T>C
NR_135797.2:n.1270+21621T>C
NR_135798.2:n.1215+21621T>C
NM_001321778.2:c.363+21621T>C	NP_001308707.1:n.363+21621T>C