Canonical Allele Identifier: CA2638704290

Gene: SGCA

Linked Data

• gnomAD v4: 17-50168052-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50168052C>T , CM000679.2:g.50168052C>T	GRCh38
NC_000017.10:g.48245413C>T , CM000679.1:g.48245413C>T	GRCh37
NC_000017.9:g.45600412C>T	NCBI36
NG_008889.1:g.7048C>T , LRG_203:g.7048C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.385+33C>T	ENSP00000422030.2:n.385+33C>T
ENST00000511303.6:n.110+33C>T
ENST00000512526.2:c.376+33C>T	ENSP00000426606.2:n.376+33C>T
ENST00000682109.1:c.265+33C>T	ENSP00000508041.1:n.265+33C>T
ENST00000683226.1:n.95+33C>T
ENST00000683294.1:c.385+33C>T	ENSP00000508134.1:n.385+33C>T
ENST00000262018.8:c.385+33C>T MANE Select	ENSP00000262018.3:n.385+33C>T
ENST00000262018.7:c.385+33C>T	ENSP00000262018.3:n.385+33C>T
ENST00000344627.10:c.385+33C>T	ENSP00000345522.6:n.385+33C>T
ENST00000502555.5:c.*44+33C>T	ENSP00000422817.1:n.*44+33C>T
ENST00000511303.5:c.106+33C>T	ENSP00000426104.1:n.106+33C>T
ENST00000512526.1:c.220+33C>T
ENST00000513821.5:c.385+33C>T	ENSP00000426571.1:n.385+33C>T
ENST00000513942.5:n.176+33C>T
ENST00000514934.1:c.*91+33C>T	ENSP00000423168.1:n.*91+33C>T
NM_000023.2:c.385+33C>T , LRG_203t1:c.385+33C>T	NP_000014.1:n.385+33C>T
NM_001135697.1:c.385+33C>T	NP_001129169.1:n.385+33C>T
XM_011525120.1:c.385+33C>T	XP_011523422.1:n.385+33C>T
XM_011525121.1:c.385+33C>T	XP_011523423.1:n.385+33C>T
XM_011525122.1:c.385+33C>T	XP_011523424.1:n.385+33C>T
XM_011525123.1:c.385+33C>T	XP_011523425.1:n.385+33C>T
XM_011525124.1:c.79+33C>T	XP_011523426.1:n.79+33C>T
XR_934517.1:n.451+33C>T
NM_000023.3:c.385+33C>T	NP_000014.1:n.385+33C>T
NM_001135697.2:c.385+33C>T	NP_001129169.1:n.385+33C>T
NR_135553.1:n.441+33C>T
XM_011525120.2:c.547+33C>T	XP_011523422.2:n.547+33C>T
XM_011525121.2:c.547+33C>T	XP_011523423.2:n.547+33C>T
XM_011525122.2:c.547+33C>T	XP_011523424.2:n.547+33C>T
XM_011525123.2:c.547+33C>T	XP_011523425.2:n.547+33C>T
XM_011525124.2:c.79+33C>T	XP_011523426.1:n.79+33C>T
XM_024450873.1:c.79+33C>T	XP_024306641.1:n.79+33C>T
XR_002958056.1:n.903+33C>T
NM_000023.4:c.385+33C>T MANE Select	NP_000014.1:n.385+33C>T
NM_001135697.3:c.385+33C>T	NP_001129169.1:n.385+33C>T
NR_135553.2:n.421+33C>T