Canonical Allele Identifier: CA1327165380
Gene: ABCA12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214990856G= , CM000664.2:g.214990856G= GRCh38
NC_000002.11:g.215855580G= , CM000664.1:g.215855580G= GRCh37
NC_000002.10:g.215563825G= NCBI36
NG_007074.1:g.152572C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.3470C= MANE Select ENSP00000272895.7:p.Ser1157=
ENST00000272895.11:c.3470C= ENSP00000272895.7:p.Ser1157=
ENST00000389661.4:c.2516C= ENSP00000374312.4:p.Ser839=
NM_015657.3:c.2516C= NP_056472.2:p.Ser839=
NM_173076.2:c.3470C= NP_775099.2:p.Ser1157=
NR_103740.1:n.3770C=
XM_011510951.1:c.3470C= XP_011509253.1:p.Ser1157=
XM_011510952.1:c.3470C= XP_011509254.1:p.Ser1157=
XM_011510951.2:c.3470C= XP_011509253.1:p.Ser1157=
NM_173076.3:c.3470C= MANE Select NP_775099.2:p.Ser1157=
NR_103740.2:n.3968C=
NM_015657.4:c.2516C= NP_056472.2:p.Ser839=