Canonical Allele Identifier: CA1327160323

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214978847A= , CM000664.2:g.214978847A=	GRCh38
NC_000002.11:g.215843571A= , CM000664.1:g.215843571A=	GRCh37
NC_000002.10:g.215551816A=	NCBI36
NG_007074.1:g.164581T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4934T= MANE Select	ENSP00000272895.7:p.Leu1645=
ENST00000272895.11:c.4934T=	ENSP00000272895.7:p.Leu1645=
ENST00000389661.4:c.3980T=	ENSP00000374312.4:p.Leu1327=
NM_015657.3:c.3980T=	NP_056472.2:p.Leu1327=
NM_173076.2:c.4934T=	NP_775099.2:p.Leu1645=
NR_103740.1:n.5234T=
XM_011510951.1:c.4943T=	XP_011509253.1:p.Leu1648=
XM_011510952.1:c.4943T=	XP_011509254.1:p.Leu1648=
XM_011510951.2:c.4943T=	XP_011509253.1:p.Leu1648=
NM_173076.3:c.4934T= MANE Select	NP_775099.2:p.Leu1645=
NR_103740.2:n.5432T=
NM_015657.4:c.3980T=	NP_056472.2:p.Leu1327=