Canonical Allele Identifier: CA1327160368

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214978935G= , CM000664.2:g.214978935G=	GRCh38
NC_000002.11:g.215843659G= , CM000664.1:g.215843659G=	GRCh37
NC_000002.10:g.215551904G=	NCBI36
NG_007074.1:g.164493C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4846C= MANE Select	ENSP00000272895.7:p.Leu1616=
ENST00000272895.11:c.4846C=	ENSP00000272895.7:p.Leu1616=
ENST00000389661.4:c.3892C=	ENSP00000374312.4:p.Leu1298=
NM_015657.3:c.3892C=	NP_056472.2:p.Leu1298=
NM_173076.2:c.4846C=	NP_775099.2:p.Leu1616=
NR_103740.1:n.5146C=
XM_011510951.1:c.4855C=	XP_011509253.1:p.Leu1619=
XM_011510952.1:c.4855C=	XP_011509254.1:p.Leu1619=
XM_011510951.2:c.4855C=	XP_011509253.1:p.Leu1619=
NM_173076.3:c.4846C= MANE Select	NP_775099.2:p.Leu1616=
NR_103740.2:n.5344C=
NM_015657.4:c.3892C=	NP_056472.2:p.Leu1298=