Canonical Allele Identifier: CA1327177548
Gene: ABCA12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215019688C= , CM000664.2:g.215019688C= GRCh38
NC_000002.11:g.215884412C= , CM000664.1:g.215884412C= GRCh37
NC_000002.10:g.215592657C= NCBI36
NG_007074.1:g.123740G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.1396G= MANE Select ENSP00000272895.7:p.Glu466=
ENST00000272895.11:c.1396G= ENSP00000272895.7:p.Glu466=
ENST00000389661.4:c.442G= ENSP00000374312.4:p.Glu148=
NM_015657.3:c.442G= NP_056472.2:p.Glu148=
NM_173076.2:c.1396G= NP_775099.2:p.Glu466=
NR_103740.1:n.1640G=
XM_011510951.1:c.1396G= XP_011509253.1:p.Glu466=
XM_011510952.1:c.1396G= XP_011509254.1:p.Glu466=
XM_011510951.2:c.1396G= XP_011509253.1:p.Glu466=
NM_173076.3:c.1396G= MANE Select NP_775099.2:p.Glu466=
NR_103740.2:n.1838G=
NM_015657.4:c.442G= NP_056472.2:p.Glu148=