Canonical Allele Identifier: CA1327161000

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214980560G= , CM000664.2:g.214980560G=	GRCh38
NC_000002.11:g.215845284G= , CM000664.1:g.215845284G=	GRCh37
NC_000002.10:g.215553529G=	NCBI36
NG_007074.1:g.162868C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4663C= MANE Select	ENSP00000272895.7:p.Leu1555=
ENST00000272895.11:c.4663C=	ENSP00000272895.7:p.Leu1555=
ENST00000389661.4:c.3709C=	ENSP00000374312.4:p.Leu1237=
NM_015657.3:c.3709C=	NP_056472.2:p.Leu1237=
NM_173076.2:c.4663C=	NP_775099.2:p.Leu1555=
NR_103740.1:n.4963C=
XM_011510951.1:c.4672C=	XP_011509253.1:p.Leu1558=
XM_011510952.1:c.4672C=	XP_011509254.1:p.Leu1558=
XM_011510951.2:c.4672C=	XP_011509253.1:p.Leu1558=
NM_173076.3:c.4663C= MANE Select	NP_775099.2:p.Leu1555=
NR_103740.2:n.5161C=
NM_015657.4:c.3709C=	NP_056472.2:p.Leu1237=