Canonical Allele Identifier: CA350460988

Gene: ABCA12

Linked Data

• dbSNP Id: rs1396197395
• gnomAD v3: 2-214980566-C-A
• gnomAD v4: 2-214980566-C-A
• COSMIC: COSM6428561 ; COSM6428562
• MyVariant Identifiers: chr2:g.215845290C>A (hg19) ; chr2:g.214980566C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214980566C>A , CM000664.2:g.214980566C>A	GRCh38
NC_000002.11:g.215845290C>A , CM000664.1:g.215845290C>A	GRCh37
NC_000002.10:g.215553535C>A	NCBI36
NG_007074.1:g.162862G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4657G>T MANE Select	ENSP00000272895.7:p.Gly1553Cys
ENST00000272895.11:c.4657G>T	ENSP00000272895.7:p.Gly1553Cys
ENST00000389661.4:c.3703G>T	ENSP00000374312.4:p.Gly1235Cys
NM_015657.3:c.3703G>T	NP_056472.2:p.Gly1235Cys
NM_173076.2:c.4657G>T	NP_775099.2:p.Gly1553Cys
NR_103740.1:n.4957G>T
XM_011510951.1:c.4666G>T	XP_011509253.1:p.Gly1556Cys
XM_011510952.1:c.4666G>T	XP_011509254.1:p.Gly1556Cys
XM_011510951.2:c.4666G>T	XP_011509253.1:p.Gly1556Cys
NM_173076.3:c.4657G>T MANE Select	NP_775099.2:p.Gly1553Cys
NR_103740.2:n.5155G>T
NM_015657.4:c.3703G>T	NP_056472.2:p.Gly1235Cys