Canonical Allele Identifier: CA400180003

Gene: SGCA

Linked Data

• dbSNP Id: rs199810179
• gnomAD v2: 17-48245851-G-C
• gnomAD v4: 17-50168490-G-C
• MyVariant Identifiers: chr17:g.48245851G>C (hg19) ; chr17:g.50168490G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50168490G>C , CM000679.2:g.50168490G>C	GRCh38
NC_000017.10:g.48245851G>C , CM000679.1:g.48245851G>C	GRCh37
NC_000017.9:g.45600850G>C	NCBI36
NG_008889.1:g.7486G>C , LRG_203:g.7486G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.502G>C	ENSP00000422030.2:p.Gly168Arg
ENST00000511303.6:n.227G>C
ENST00000512526.2:c.493G>C	ENSP00000426606.2:n.493G>C
ENST00000682109.1:c.382G>C	ENSP00000508041.1:p.Gly128Arg
ENST00000683226.1:n.212G>C
ENST00000683294.1:c.502G>C	ENSP00000508134.1:p.Gly168Arg
ENST00000262018.8:c.502G>C MANE Select	ENSP00000262018.3:p.Gly168Arg
ENST00000262018.7:c.502G>C	ENSP00000262018.3:p.Gly168Arg
ENST00000344627.10:c.502G>C	ENSP00000345522.6:p.Gly168Arg
ENST00000502555.5:c.*161G>C	ENSP00000422817.1:n.*161G>C
ENST00000511303.5:c.223G>C	ENSP00000426104.1:p.Gly75Arg
ENST00000512526.1:c.337G>C
ENST00000513821.5:c.502G>C	ENSP00000426571.1:p.Gly168Arg
ENST00000513942.5:n.293G>C
ENST00000514934.1:c.*208G>C	ENSP00000423168.1:n.*208G>C
NM_000023.2:c.502G>C , LRG_203t1:c.502G>C	NP_000014.1:p.Gly168Arg
NM_001135697.1:c.502G>C	NP_001129169.1:p.Gly168Arg
XM_011525120.1:c.502G>C	XP_011523422.1:p.Gly168Arg
XM_011525121.1:c.502G>C	XP_011523423.1:p.Gly168Arg
XM_011525122.1:c.502G>C	XP_011523424.1:p.Gly168Arg
XM_011525123.1:c.502G>C	XP_011523425.1:p.Gly168Arg
XM_011525124.1:c.196G>C	XP_011523426.1:p.Gly66Arg
XR_934517.1:n.568G>C
NM_000023.3:c.502G>C	NP_000014.1:p.Gly168Arg
NM_001135697.2:c.502G>C	NP_001129169.1:p.Gly168Arg
NR_135553.1:n.558G>C
XM_011525120.2:c.664G>C	XP_011523422.2:p.Gly222Arg
XM_011525121.2:c.664G>C	XP_011523423.2:p.Gly222Arg
XM_011525122.2:c.664G>C	XP_011523424.2:p.Gly222Arg
XM_011525123.2:c.664G>C	XP_011523425.2:p.Gly222Arg
XM_011525124.2:c.196G>C	XP_011523426.1:p.Gly66Arg
XM_024450873.1:c.196G>C	XP_024306641.1:p.Gly66Arg
XR_002958056.1:n.1020G>C
NM_000023.4:c.502G>C MANE Select	NP_000014.1:p.Gly168Arg
NM_001135697.3:c.502G>C	NP_001129169.1:p.Gly168Arg
NR_135553.2:n.538G>C