Canonical Allele Identifier: CA392948382
Gene: SMAD6 HGNC NCBI

Linked Data

ClinVar Variation Id: 3224796
ClinVar RCV Id: RCV004521486

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66703308G>A , CM000677.2:g.66703308G>A GRCh38
NC_000015.9:g.66995646G>A , CM000677.1:g.66995646G>A GRCh37
NC_000015.8:g.64782700G>A NCBI36
NG_012244.1:g.5973G>A
NG_012244.2:g.5973G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.50G>A MANE Select ENSP00000288840.5:p.Arg17His
ENST00000288840.9:c.50G>A ENSP00000288840.5:p.Arg17His
ENST00000557916.5:c.50G>A ENSP00000452955.1:p.Arg17His
ENST00000612349.1:n.232G>A
NM_005585.4:c.50G>A NP_005576.3:p.Arg17His
NR_027654.1:n.973G>A
XR_931825.1:n.1209G>A
XR_931826.1:n.1209G>A
XR_931827.1:n.1209G>A
XR_931827.2:n.1199G>A
NM_005585.5:c.50G>A MANE Select NP_005576.3:p.Arg17His
NR_027654.2:n.1073G>A