Canonical Allele Identifier: CA984442173

Gene: SGCA

Linked Data

• dbSNP Id: rs1905244674
• gnomAD v3: 17-50170067-T-C
• gnomAD v4: 17-50170067-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50170067T>C , CM000679.2:g.50170067T>C	GRCh38
NC_000017.10:g.48247428T>C , CM000679.1:g.48247428T>C	GRCh37
NC_000017.9:g.45602427T>C	NCBI36
NG_008889.1:g.9063T>C , LRG_203:g.9063T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.598-76T>C	ENSP00000422030.2:n.598-76T>C
ENST00000511303.6:n.310-573T>C
ENST00000512526.2:c.576-573T>C	ENSP00000426606.2:n.576-573T>C
ENST00000682109.1:c.628-76T>C	ENSP00000508041.1:n.628-76T>C
ENST00000683226.1:n.1270T>C
ENST00000683294.1:c.751T>C	ENSP00000508134.1:p.Trp251Arg
ENST00000683544.1:n.38T>C
ENST00000262018.8:c.748-76T>C MANE Select	ENSP00000262018.3:n.748-76T>C
ENST00000262018.7:c.748-76T>C	ENSP00000262018.3:n.748-76T>C
ENST00000344627.10:c.585-573T>C	ENSP00000345522.6:n.585-573T>C
ENST00000504073.1:c.65-76T>C
ENST00000511303.5:c.306-573T>C	ENSP00000426104.1:n.306-573T>C
ENST00000512526.1:c.420-573T>C
ENST00000513821.5:c.748-573T>C	ENSP00000426571.1:n.748-573T>C
ENST00000513942.5:n.376-573T>C
NM_000023.2:c.748-76T>C , LRG_203t1:c.748-76T>C	NP_000014.1:n.748-76T>C
NM_001135697.1:c.585-573T>C	NP_001129169.1:n.585-573T>C
XM_011525120.1:c.748-76T>C	XP_011523422.1:n.748-76T>C
XM_011525121.1:c.598-76T>C	XP_011523423.1:n.598-76T>C
XM_011525122.1:c.748-573T>C	XP_011523424.1:n.748-573T>C
XM_011525123.1:c.585-573T>C	XP_011523425.1:n.585-573T>C
XM_011525124.1:c.442-76T>C	XP_011523426.1:n.442-76T>C
XR_934517.1:n.814-573T>C
NM_000023.3:c.748-76T>C	NP_000014.1:n.748-76T>C
NM_001135697.2:c.585-573T>C	NP_001129169.1:n.585-573T>C
NR_135553.1:n.804-573T>C
XM_011525120.2:c.910-76T>C	XP_011523422.2:n.910-76T>C
XM_011525121.2:c.760-76T>C	XP_011523423.2:n.760-76T>C
XM_011525122.2:c.910-573T>C	XP_011523424.2:n.910-573T>C
XM_011525123.2:c.747-573T>C	XP_011523425.2:n.747-573T>C
XM_011525124.2:c.442-76T>C	XP_011523426.1:n.442-76T>C
XM_024450873.1:c.442-76T>C	XP_024306641.1:n.442-76T>C
XR_002958056.1:n.1269T>C
NM_000023.4:c.748-76T>C MANE Select	NP_000014.1:n.748-76T>C
NM_001135697.3:c.585-573T>C	NP_001129169.1:n.585-573T>C
NR_135553.2:n.784-573T>C