Canonical Allele Identifier: CA1327165405
Gene: ABCA12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214990937A= , CM000664.2:g.214990937A= GRCh38
NC_000002.11:g.215855661A= , CM000664.1:g.215855661A= GRCh37
NC_000002.10:g.215563906A= NCBI36
NG_007074.1:g.152491T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.3389T= MANE Select ENSP00000272895.7:p.Ile1130=
ENST00000272895.11:c.3389T= ENSP00000272895.7:p.Ile1130=
ENST00000389661.4:c.2435T= ENSP00000374312.4:p.Ile812=
NM_015657.3:c.2435T= NP_056472.2:p.Ile812=
NM_173076.2:c.3389T= NP_775099.2:p.Ile1130=
NR_103740.1:n.3689T=
XM_011510951.1:c.3389T= XP_011509253.1:p.Ile1130=
XM_011510952.1:c.3389T= XP_011509254.1:p.Ile1130=
XM_011510951.2:c.3389T= XP_011509253.1:p.Ile1130=
NM_173076.3:c.3389T= MANE Select NP_775099.2:p.Ile1130=
NR_103740.2:n.3887T=
NM_015657.4:c.2435T= NP_056472.2:p.Ile812=