Canonical Allele Identifier: CA350459458

Gene: ABCA12

Linked Data

• dbSNP Id: rs1487347915
• MyVariant Identifiers: chr2:g.215843533C>T (hg19) ; chr2:g.214978809C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214978809C>T , CM000664.2:g.214978809C>T	GRCh38
NC_000002.11:g.215843533C>T , CM000664.1:g.215843533C>T	GRCh37
NC_000002.10:g.215551778C>T	NCBI36
NG_007074.1:g.164619G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.4972G>A MANE Select	ENSP00000272895.7:p.Glu1658Lys
ENST00000272895.11:c.4972G>A	ENSP00000272895.7:p.Glu1658Lys
ENST00000389661.4:c.4018G>A	ENSP00000374312.4:p.Glu1340Lys
NM_015657.3:c.4018G>A	NP_056472.2:p.Glu1340Lys
NM_173076.2:c.4972G>A	NP_775099.2:p.Glu1658Lys
NR_103740.1:n.5272G>A
XM_011510951.1:c.4981G>A	XP_011509253.1:p.Glu1661Lys
XM_011510952.1:c.4981G>A	XP_011509254.1:p.Glu1661Lys
XM_011510951.2:c.4981G>A	XP_011509253.1:p.Glu1661Lys
NM_173076.3:c.4972G>A MANE Select	NP_775099.2:p.Glu1658Lys
NR_103740.2:n.5470G>A
NM_015657.4:c.4018G>A	NP_056472.2:p.Glu1340Lys