Canonical Allele Identifier: CA2119370
Gene: ABCB6 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs147445258

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219213930C>T , CM000664.2:g.219213930C>T GRCh38
NC_000002.10:g.219786896C>T NCBI36
NC_000002.11:g.220078652C>T , CM000664.1:g.220078652C>T GRCh37
NG_032110.1:g.10061G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265316.7:c.1474G>A ENSP00000265316.3:p.Ala492Thr
ENST00000295750.4:n.1017G>A
ENST00000446716.5:n.4199G>A
ENST00000448398.5:n.550G>A
ENST00000494639.5:n.383G>A
ENST00000496984.5:n.675G>A
ENST00000497882.5:n.1787G>A
NM_005689.2:c.1474G>A VV NP_005680.1:p.Ala492Thr