Canonical Allele Identifier: CA1327174110

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011475G= , CM000664.2:g.215011475G=	GRCh38
NC_000002.11:g.215876199G= , CM000664.1:g.215876199G=	GRCh37
NC_000002.10:g.215584444G=	NCBI36
NG_007074.1:g.131953C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2296C= MANE Select	ENSP00000272895.7:p.Gln766=
ENST00000272895.11:c.2296C=	ENSP00000272895.7:p.Gln766=
ENST00000389661.4:c.1342C=	ENSP00000374312.4:p.Gln448=
NM_015657.3:c.1342C=	NP_056472.2:p.Gln448=
NM_173076.2:c.2296C=	NP_775099.2:p.Gln766=
NR_103740.1:n.2540C=
XM_011510951.1:c.2296C=	XP_011509253.1:p.Gln766=
XM_011510952.1:c.2296C=	XP_011509254.1:p.Gln766=
XM_011510951.2:c.2296C=	XP_011509253.1:p.Gln766=
NM_173076.3:c.2296C= MANE Select	NP_775099.2:p.Gln766=
NR_103740.2:n.2738C=
NM_015657.4:c.1342C=	NP_056472.2:p.Gln448=