Canonical Allele Identifier: CA1327177519

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215019611G= , CM000664.2:g.215019611G=	GRCh38
NC_000002.11:g.215884335G= , CM000664.1:g.215884335G=	GRCh37
NC_000002.10:g.215592580G=	NCBI36
NG_007074.1:g.123817C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.1473C= MANE Select	ENSP00000272895.7:p.Asp491=
ENST00000272895.11:c.1473C=	ENSP00000272895.7:p.Asp491=
ENST00000389661.4:c.519C=	ENSP00000374312.4:p.Asp173=
NM_015657.3:c.519C=	NP_056472.2:p.Asp173=
NM_173076.2:c.1473C=	NP_775099.2:p.Asp491=
NR_103740.1:n.1717C=
XM_011510951.1:c.1473C=	XP_011509253.1:p.Asp491=
XM_011510952.1:c.1473C=	XP_011509254.1:p.Asp491=
XM_011510951.2:c.1473C=	XP_011509253.1:p.Asp491=
NM_173076.3:c.1473C= MANE Select	NP_775099.2:p.Asp491=
NR_103740.2:n.1915C=
NM_015657.4:c.519C=	NP_056472.2:p.Asp173=