Canonical Allele Identifier: CA246612641

Gene: SGCG

Linked Data

• dbSNP Id: rs915362994
• gnomAD v4: 13-23181123-C-A
• MyVariant Identifiers: chr13:g.23755262C>A (hg19) ; chr13:g.23181123C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23181123C>A , CM000675.2:g.23181123C>A	GRCh38
NC_000013.10:g.23755262C>A , CM000675.1:g.23755262C>A	GRCh37
NC_000013.9:g.22653262C>A	NCBI36
NG_008759.1:g.5203C>A , LRG_207:g.5203C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218867.4:c.-1+48C>A MANE Select	ENSP00000218867.3:n.-1+48C>A
ENST00000218867.3:c.-1+48C>A	ENSP00000218867.3:n.-1+48C>A
NM_000231.2:c.-1+48C>A , LRG_207t1:c.-1+48C>A	NP_000222.1:n.-1+48C>A
XM_005266505.2:c.-152+48C>A	XP_005266562.1:n.-152+48C>A
XM_006719861.2:c.54+20477C>A	XP_006719924.1:n.54+20477C>A
XM_006719861.3:c.54+20477C>A	XP_006719924.1:n.54+20477C>A
XM_024449397.1:c.-152+140C>A	XP_024305165.1:n.-152+140C>A
NM_000231.3:c.-1+48C>A MANE Select	NP_000222.2:n.-1+48C>A
NM_001378244.1:c.54+20477C>A	NP_001365173.1:n.54+20477C>A
NM_001378245.1:c.-152+140C>A	NP_001365174.1:n.-152+140C>A
NM_001378246.1:c.-152+48C>A	NP_001365175.1:n.-152+48C>A