Canonical Allele Identifier: CA2078591031

Gene: SGCG

Linked Data

• dbSNP Id: rs1879933184
• gnomAD v3: 13-23250756-G-A
• gnomAD v4: 13-23250756-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23250756G>A , CM000675.2:g.23250756G>A	GRCh38
NC_000013.10:g.23824895G>A , CM000675.1:g.23824895G>A	GRCh37
NC_000013.9:g.22722895G>A	NCBI36
NG_008759.1:g.74836G>A , LRG_207:g.74836G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218867.4:c.385+39G>A MANE Select	ENSP00000218867.3:n.385+39G>A
ENST00000218867.3:c.385+39G>A	ENSP00000218867.3:n.385+39G>A
NM_000231.2:c.385+39G>A , LRG_207t1:c.385+39G>A	NP_000222.1:n.385+39G>A
XM_005266505.2:c.385+39G>A	XP_005266562.1:n.385+39G>A
XM_006719861.2:c.439+39G>A	XP_006719924.1:n.439+39G>A
XM_006719861.3:c.439+39G>A	XP_006719924.1:n.439+39G>A
XM_024449397.1:c.385+39G>A	XP_024305165.1:n.385+39G>A
NM_000231.3:c.385+39G>A MANE Select	NP_000222.2:n.385+39G>A
NM_001378244.1:c.439+39G>A	NP_001365173.1:n.439+39G>A
NM_001378245.1:c.385+39G>A	NP_001365174.1:n.385+39G>A
NM_001378246.1:c.385+39G>A	NP_001365175.1:n.385+39G>A