Canonical Allele Identifier: CA1327161848
Gene: ABCA12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214982225C= , CM000664.2:g.214982225C= GRCh38
NC_000002.11:g.215846949C= , CM000664.1:g.215846949C= GRCh37
NC_000002.10:g.215555194C= NCBI36
NG_007074.1:g.161203G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.4541G= MANE Select ENSP00000272895.7:p.Arg1514=
ENST00000272895.11:c.4541G= ENSP00000272895.7:p.Arg1514=
ENST00000389661.4:c.3587G= ENSP00000374312.4:p.Arg1196=
NM_015657.3:c.3587G= NP_056472.2:p.Arg1196=
NM_173076.2:c.4541G= NP_775099.2:p.Arg1514=
NR_103740.1:n.4841G=
XM_011510951.1:c.4550G= XP_011509253.1:p.Arg1517=
XM_011510952.1:c.4550G= XP_011509254.1:p.Arg1517=
XM_011510951.2:c.4550G= XP_011509253.1:p.Arg1517=
NM_173076.3:c.4541G= MANE Select NP_775099.2:p.Arg1514=
NR_103740.2:n.5039G=
NM_015657.4:c.3587G= NP_056472.2:p.Arg1196=