Canonical Allele Identifier: CA400178314

Gene: SGCA

Linked Data

• MyVariant Identifiers: chr17:g.48245317T>C (hg19) ; chr17:g.50167956T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167956T>C , CM000679.2:g.50167956T>C	GRCh38
NC_000017.10:g.48245317T>C , CM000679.1:g.48245317T>C	GRCh37
NC_000017.9:g.45600316T>C	NCBI36
NG_008889.1:g.6952T>C , LRG_203:g.6952T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.322T>C	ENSP00000422030.2:p.Tyr108His
ENST00000511303.6:n.47T>C
ENST00000512526.2:c.313T>C	ENSP00000426606.2:p.Tyr105His
ENST00000682109.1:c.202T>C	ENSP00000508041.1:p.Tyr68His
ENST00000683226.1:n.32T>C
ENST00000683294.1:c.322T>C	ENSP00000508134.1:p.Tyr108His
ENST00000262018.8:c.322T>C MANE Select	ENSP00000262018.3:p.Tyr108His
ENST00000262018.7:c.322T>C	ENSP00000262018.3:p.Tyr108His
ENST00000344627.10:c.322T>C	ENSP00000345522.6:p.Tyr108His
ENST00000502555.5:c.167T>C	ENSP00000422817.1:p.Leu56Pro
ENST00000511303.5:c.43T>C	ENSP00000426104.1:p.Tyr15His
ENST00000512526.1:c.157T>C
ENST00000513821.5:c.322T>C	ENSP00000426571.1:p.Tyr108His
ENST00000513942.5:n.113T>C
ENST00000514934.1:c.*28T>C	ENSP00000423168.1:n.*28T>C
NM_000023.2:c.322T>C , LRG_203t1:c.322T>C	NP_000014.1:p.Tyr108His
NM_001135697.1:c.322T>C	NP_001129169.1:p.Tyr108His
XM_011525120.1:c.322T>C	XP_011523422.1:p.Tyr108His
XM_011525121.1:c.322T>C	XP_011523423.1:p.Tyr108His
XM_011525122.1:c.322T>C	XP_011523424.1:p.Tyr108His
XM_011525123.1:c.322T>C	XP_011523425.1:p.Tyr108His
XM_011525124.1:c.16T>C	XP_011523426.1:p.Tyr6His
XR_934517.1:n.388T>C
NM_000023.3:c.322T>C	NP_000014.1:p.Tyr108His
NM_001135697.2:c.322T>C	NP_001129169.1:p.Tyr108His
NR_135553.1:n.378T>C
XM_011525120.2:c.484T>C	XP_011523422.2:p.Tyr162His
XM_011525121.2:c.484T>C	XP_011523423.2:p.Tyr162His
XM_011525122.2:c.484T>C	XP_011523424.2:p.Tyr162His
XM_011525123.2:c.484T>C	XP_011523425.2:p.Tyr162His
XM_011525124.2:c.16T>C	XP_011523426.1:p.Tyr6His
XM_024450873.1:c.16T>C	XP_024306641.1:p.Tyr6His
XR_002958056.1:n.840T>C
NM_000023.4:c.322T>C MANE Select	NP_000014.1:p.Tyr108His
NM_001135697.3:c.322T>C	NP_001129169.1:p.Tyr108His
NR_135553.2:n.358T>C