Canonical Allele Identifier: CA350446828

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215018130G>T , CM000664.2:g.215018130G>T	GRCh38
NC_000002.11:g.215882854G>T , CM000664.1:g.215882854G>T	GRCh37
NC_000002.10:g.215591099G>T	NCBI36
NG_007074.1:g.125298C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_173076.3:c.1660C>A MANE Select	NP_775099.2:p.Gln554Lys
ENST00000272895.12:c.1660C>A MANE Select	ENSP00000272895.7:p.Gln554Lys
NM_015657.3:c.706C>A	NP_056472.2:p.Gln236Lys
NM_015657.4:c.706C>A	NP_056472.2:p.Gln236Lys
NM_173076.2:c.1660C>A	NP_775099.2:p.Gln554Lys
NR_103740.1:n.1904C>A
NR_103740.2:n.2102C>A
ENST00000272895.11:c.1660C>A	ENSP00000272895.7:p.Gln554Lys
ENST00000389661.4:c.706C>A	ENSP00000374312.4:p.Gln236Lys
XM_011510951.1:c.1660C>A	XP_011509253.1:p.Gln554Lys
XM_011510951.2:c.1660C>A	XP_011509253.1:p.Gln554Lys
XM_011510952.1:c.1660C>A	XP_011509254.1:p.Gln554Lys