Canonical Allele Identifier: CA431146918

Gene: ABCA12

Linked Data

• dbSNP Id: rs1699580601
• gnomAD v4: 2-214978804-C-T
• MyVariant Identifiers: chr2:g.215843528C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214978804C>T , CM000664.2:g.214978804C>T	GRCh38
NC_000002.11:g.215843528C>T , CM000664.1:g.215843528C>T	GRCh37
NC_000002.10:g.215551773C>T	NCBI36
NG_007074.1:g.164624G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.4977G>A MANE Select	ENSP00000272895.7:p.Glu1659=
ENST00000272895.11:c.4977G>A	ENSP00000272895.7:p.Glu1659=
ENST00000389661.4:c.4023G>A	ENSP00000374312.4:p.Glu1341=
NM_015657.3:c.4023G>A	NP_056472.2:p.Glu1341=
NM_173076.2:c.4977G>A	NP_775099.2:p.Glu1659=
NR_103740.1:n.5277G>A
XM_011510951.1:c.4986G>A	XP_011509253.1:p.Glu1662=
XM_011510952.1:c.4986G>A	XP_011509254.1:p.Glu1662=
XM_011510951.2:c.4986G>A	XP_011509253.1:p.Glu1662=
NM_173076.3:c.4977G>A MANE Select	NP_775099.2:p.Glu1659=
NR_103740.2:n.5475G>A
NM_015657.4:c.4023G>A	NP_056472.2:p.Glu1341=