Canonical Allele Identifier: CA1327160985
Gene: ABCA12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214980527C= , CM000664.2:g.214980527C= GRCh38
NC_000002.11:g.215845251C= , CM000664.1:g.215845251C= GRCh37
NC_000002.10:g.215553496C= NCBI36
NG_007074.1:g.162901G=

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.4696G= MANE Select ENSP00000272895.7:p.Glu1566=
ENST00000272895.11:c.4696G= ENSP00000272895.7:p.Glu1566=
ENST00000389661.4:c.3742G= ENSP00000374312.4:p.Glu1248=
NM_015657.3:c.3742G= NP_056472.2:p.Glu1248=
NM_173076.2:c.4696G= NP_775099.2:p.Glu1566=
NR_103740.1:n.4996G=
XM_011510951.1:c.4705G= XP_011509253.1:p.Glu1569=
XM_011510952.1:c.4705G= XP_011509254.1:p.Glu1569=
XM_011510951.2:c.4705G= XP_011509253.1:p.Glu1569=
NM_173076.3:c.4696G= MANE Select NP_775099.2:p.Glu1566=
NR_103740.2:n.5194G=
NM_015657.4:c.3742G= NP_056472.2:p.Glu1248=