Canonical Allele Identifier: CA1327174137
Gene: ABCA12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215011548G= , CM000664.2:g.215011548G= GRCh38
NC_000002.11:g.215876272G= , CM000664.1:g.215876272G= GRCh37
NC_000002.10:g.215584517G= NCBI36
NG_007074.1:g.131880C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.2223C= MANE Select ENSP00000272895.7:p.Ala741=
ENST00000272895.11:c.2223C= ENSP00000272895.7:p.Ala741=
ENST00000389661.4:c.1269C= ENSP00000374312.4:p.Ala423=
NM_015657.3:c.1269C= NP_056472.2:p.Ala423=
NM_173076.2:c.2223C= NP_775099.2:p.Ala741=
NR_103740.1:n.2467C=
XM_011510951.1:c.2223C= XP_011509253.1:p.Ala741=
XM_011510952.1:c.2223C= XP_011509254.1:p.Ala741=
XM_011510951.2:c.2223C= XP_011509253.1:p.Ala741=
NM_173076.3:c.2223C= MANE Select NP_775099.2:p.Ala741=
NR_103740.2:n.2665C=
NM_015657.4:c.1269C= NP_056472.2:p.Ala423=