Canonical Allele Identifier: CA252483
Gene: ABCA12 HGNC NCBI

Linked Data

ClinVar Variation Id: 2862
dbSNP Id: rs137853289

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214953891G>A , CM000664.2:g.214953891G>A GRCh38
NC_000002.11:g.215818615G>A , CM000664.1:g.215818615G>A GRCh37
NC_000002.10:g.215526860G>A NCBI36
NG_007074.1:g.189537C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.6610C>T MANE Select ENSP00000272895.7:p.Arg2204Ter
ENST00000272895.11:c.6610C>T ENSP00000272895.7:p.Arg2204Ter
ENST00000389661.4:c.5656C>T ENSP00000374312.4:p.Arg1886Ter
NM_015657.3:c.5656C>T NP_056472.2:p.Arg1886Ter
NM_173076.2:c.6610C>T NP_775099.2:p.Arg2204Ter
NR_103740.1:n.6910C>T
NR_110292.1:n.444+5944G>A
XM_011510951.1:c.6619C>T XP_011509253.1:p.Arg2207Ter
XM_011510951.2:c.6619C>T XP_011509253.1:p.Arg2207Ter
NM_173076.3:c.6610C>T MANE Select NP_775099.2:p.Arg2204Ter
NR_103740.2:n.7108C>T
NM_015657.4:c.5656C>T NP_056472.2:p.Arg1886Ter