Canonical Allele Identifier: CA1327160325
Gene: ABCA12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214978851C= , CM000664.2:g.214978851C= GRCh38
NC_000002.11:g.215843575C= , CM000664.1:g.215843575C= GRCh37
NC_000002.10:g.215551820C= NCBI36
NG_007074.1:g.164577G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.4930G= MANE Select ENSP00000272895.7:p.Asp1644=
ENST00000272895.11:c.4930G= ENSP00000272895.7:p.Asp1644=
ENST00000389661.4:c.3976G= ENSP00000374312.4:p.Asp1326=
NM_015657.3:c.3976G= NP_056472.2:p.Asp1326=
NM_173076.2:c.4930G= NP_775099.2:p.Asp1644=
NR_103740.1:n.5230G=
XM_011510951.1:c.4939G= XP_011509253.1:p.Asp1647=
XM_011510952.1:c.4939G= XP_011509254.1:p.Asp1647=
XM_011510951.2:c.4939G= XP_011509253.1:p.Asp1647=
NM_173076.3:c.4930G= MANE Select NP_775099.2:p.Asp1644=
NR_103740.2:n.5428G=
NM_015657.4:c.3976G= NP_056472.2:p.Asp1326=