Canonical Allele Identifier: CA350461712

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214982226G>A , CM000664.2:g.214982226G>A	GRCh38
NC_000002.11:g.215846950G>A , CM000664.1:g.215846950G>A	GRCh37
NC_000002.10:g.215555195G>A	NCBI36
NG_007074.1:g.161202C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_173076.3:c.4540C>T MANE Select	NP_775099.2:p.Arg1514Cys
ENST00000272895.12:c.4540C>T MANE Select	ENSP00000272895.7:p.Arg1514Cys
NM_015657.3:c.3586C>T	NP_056472.2:p.Arg1196Cys
NM_015657.4:c.3586C>T	NP_056472.2:p.Arg1196Cys
NM_173076.2:c.4540C>T	NP_775099.2:p.Arg1514Cys
NR_103740.1:n.4840C>T
NR_103740.2:n.5038C>T
ENST00000272895.11:c.4540C>T	ENSP00000272895.7:p.Arg1514Cys
ENST00000389661.4:c.3586C>T	ENSP00000374312.4:p.Arg1196Cys
XM_011510951.1:c.4549C>T	XP_011509253.1:p.Arg1517Cys
XM_011510951.2:c.4549C>T	XP_011509253.1:p.Arg1517Cys
XM_011510952.1:c.4549C>T	XP_011509254.1:p.Arg1517Cys