Canonical Allele Identifier: CA1327177498
Gene: ABCA12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215019567G= , CM000664.2:g.215019567G= GRCh38
NC_000002.11:g.215884291G= , CM000664.1:g.215884291G= GRCh37
NC_000002.10:g.215592536G= NCBI36
NG_007074.1:g.123861C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.1517C= MANE Select ENSP00000272895.7:p.Pro506=
ENST00000272895.11:c.1517C= ENSP00000272895.7:p.Pro506=
ENST00000389661.4:c.563C= ENSP00000374312.4:p.Pro188=
NM_015657.3:c.563C= NP_056472.2:p.Pro188=
NM_173076.2:c.1517C= NP_775099.2:p.Pro506=
NR_103740.1:n.1761C=
XM_011510951.1:c.1517C= XP_011509253.1:p.Pro506=
XM_011510952.1:c.1517C= XP_011509254.1:p.Pro506=
XM_011510951.2:c.1517C= XP_011509253.1:p.Pro506=
NM_173076.3:c.1517C= MANE Select NP_775099.2:p.Pro506=
NR_103740.2:n.1959C=
NM_015657.4:c.563C= NP_056472.2:p.Pro188=