Canonical Allele Identifier: CA400176355

Gene: SGCA

Linked Data

• MyVariant Identifiers: chr17:g.48244746G>T (hg19) ; chr17:g.50167385G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167385G>T , CM000679.2:g.50167385G>T	GRCh38
NC_000017.10:g.48244746G>T , CM000679.1:g.48244746G>T	GRCh37
NC_000017.9:g.45599745G>T	NCBI36
NG_008889.1:g.6381G>T , LRG_203:g.6381G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.55G>T	ENSP00000422030.2:p.Gly19Trp
ENST00000511303.6:n.38-562G>T
ENST00000512526.2:c.55G>T	ENSP00000426606.2:p.Gly19Trp
ENST00000682109.1:c.38-197G>T	ENSP00000508041.1:n.38-197G>T
ENST00000683294.1:c.55G>T	ENSP00000508134.1:p.Gly19Trp
ENST00000262018.8:c.55G>T MANE Select	ENSP00000262018.3:p.Gly19Trp
ENST00000262018.7:c.55G>T	ENSP00000262018.3:p.Gly19Trp
ENST00000344627.10:c.55G>T	ENSP00000345522.6:p.Gly19Trp
ENST00000502555.5:c.55G>T	ENSP00000422817.1:p.Gly19Trp
ENST00000511303.5:c.34-562G>T	ENSP00000426104.1:n.34-562G>T
ENST00000513821.5:c.55G>T	ENSP00000426571.1:p.Gly19Trp
ENST00000513942.5:n.104-562G>T
ENST00000514934.1:c.114G>T	ENSP00000423168.1:p.Trp38Cys
NM_000023.2:c.55G>T , LRG_203t1:c.55G>T	NP_000014.1:p.Gly19Trp
NM_001135697.1:c.55G>T	NP_001129169.1:p.Gly19Trp
XM_011525120.1:c.55G>T	XP_011523422.1:p.Gly19Trp
XM_011525121.1:c.55G>T	XP_011523423.1:p.Gly19Trp
XM_011525122.1:c.55G>T	XP_011523424.1:p.Gly19Trp
XM_011525123.1:c.55G>T	XP_011523425.1:p.Gly19Trp
XM_011525124.1:c.-97G>T	XP_011523426.1:n.-97G>T
XR_934517.1:n.121G>T
NM_000023.3:c.55G>T	NP_000014.1:p.Gly19Trp
NM_001135697.2:c.55G>T	NP_001129169.1:p.Gly19Trp
NR_135553.1:n.111G>T
XM_011525120.2:c.217G>T	XP_011523422.2:p.Gly73Trp
XM_011525121.2:c.217G>T	XP_011523423.2:p.Gly73Trp
XM_011525122.2:c.217G>T	XP_011523424.2:p.Gly73Trp
XM_011525123.2:c.217G>T	XP_011523425.2:p.Gly73Trp
XM_011525124.2:c.-97G>T	XP_011523426.1:n.-97G>T
XM_024450873.1:c.-97G>T	XP_024306641.1:n.-97G>T
XR_002958056.1:n.573G>T
NM_000023.4:c.55G>T MANE Select	NP_000014.1:p.Gly19Trp
NM_001135697.3:c.55G>T	NP_001129169.1:p.Gly19Trp
NR_135553.2:n.91G>T