Canonical Allele Identifier: CA2638704063

Gene: SGCA

Linked Data

• gnomAD v4: 17-50167847-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167847A>C , CM000679.2:g.50167847A>C	GRCh38
NC_000017.10:g.48245208A>C , CM000679.1:g.48245208A>C	GRCh37
NC_000017.9:g.45600207A>C	NCBI36
NG_008889.1:g.6843A>C , LRG_203:g.6843A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.313-100A>C	ENSP00000422030.2:n.313-100A>C
ENST00000511303.6:n.38-100A>C
ENST00000512526.2:c.304-100A>C	ENSP00000426606.2:n.304-100A>C
ENST00000682109.1:c.193-100A>C	ENSP00000508041.1:n.193-100A>C
ENST00000683226.1:n.23-100A>C
ENST00000683294.1:c.313-100A>C	ENSP00000508134.1:n.313-100A>C
ENST00000262018.8:c.313-100A>C MANE Select	ENSP00000262018.3:n.313-100A>C
ENST00000262018.7:c.313-100A>C	ENSP00000262018.3:n.313-100A>C
ENST00000344627.10:c.313-100A>C	ENSP00000345522.6:n.313-100A>C
ENST00000502555.5:c.158-100A>C	ENSP00000422817.1:n.158-100A>C
ENST00000511303.5:c.34-100A>C	ENSP00000426104.1:n.34-100A>C
ENST00000512526.1:c.148-100A>C
ENST00000513821.5:c.313-100A>C	ENSP00000426571.1:n.313-100A>C
ENST00000513942.5:n.104-100A>C
ENST00000514934.1:c.*19-100A>C	ENSP00000423168.1:n.*19-100A>C
NM_000023.2:c.313-100A>C , LRG_203t1:c.313-100A>C	NP_000014.1:n.313-100A>C
NM_001135697.1:c.313-100A>C	NP_001129169.1:n.313-100A>C
XM_011525120.1:c.313-100A>C	XP_011523422.1:n.313-100A>C
XM_011525121.1:c.313-100A>C	XP_011523423.1:n.313-100A>C
XM_011525122.1:c.313-100A>C	XP_011523424.1:n.313-100A>C
XM_011525123.1:c.313-100A>C	XP_011523425.1:n.313-100A>C
XM_011525124.1:c.7-100A>C	XP_011523426.1:n.7-100A>C
XR_934517.1:n.379-100A>C
NM_000023.3:c.313-100A>C	NP_000014.1:n.313-100A>C
NM_001135697.2:c.313-100A>C	NP_001129169.1:n.313-100A>C
NR_135553.1:n.369-100A>C
XM_011525120.2:c.475-100A>C	XP_011523422.2:n.475-100A>C
XM_011525121.2:c.475-100A>C	XP_011523423.2:n.475-100A>C
XM_011525122.2:c.475-100A>C	XP_011523424.2:n.475-100A>C
XM_011525123.2:c.475-100A>C	XP_011523425.2:n.475-100A>C
XM_011525124.2:c.7-100A>C	XP_011523426.1:n.7-100A>C
XM_024450873.1:c.7-100A>C	XP_024306641.1:n.7-100A>C
XR_002958056.1:n.831-100A>C
NM_000023.4:c.313-100A>C MANE Select	NP_000014.1:n.313-100A>C
NM_001135697.3:c.313-100A>C	NP_001129169.1:n.313-100A>C
NR_135553.2:n.349-100A>C