Canonical Allele Identifier: CA212652
Gene: ABCB6 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 218181
ClinVar RCV Id: RCV000202405
dbSNP Id: rs148211042

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219210799C>T , CM000664.2:g.219210799C>T GRCh38
NC_000002.11:g.220075521C>T , CM000664.1:g.220075521C>T GRCh37
NC_000002.10:g.219783765C>T NCBI36
NG_032110.1:g.13192G>A

Transcript Alleles

HGVS Amino-acid change
NM_005689.2:c.2168G>A VV NP_005680.1:p.Arg723Gln
NM_001349828.1:c.2030G>A VV NP_001336757.1:p.Arg677Gln
NM_005689.3:c.2168G>A VV NP_005680.1:p.Arg723Gln
NM_005689.4:c.2168G>A VV MANE Preferred NP_005680.1:p.Arg723Gln
ENST00000265316.7:c.2168G>A ENSP00000265316.3:p.Arg723Gln
ENST00000295750.4:n.1711G>A
ENST00000443805.1:n.156G>A
ENST00000446716.5:n.4718G>A
ENST00000485773.5:n.200G>A
ENST00000487380.5:n.241G>A
ENST00000492543.1:n.718G>A
ENST00000497882.5:n.2481G>A