Canonical Allele Identifier: CA392948471
Gene: SMAD6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66703335G>T , CM000677.2:g.66703335G>T GRCh38
NC_000015.9:g.66995673G>T , CM000677.1:g.66995673G>T GRCh37
NC_000015.8:g.64782727G>T NCBI36
NG_012244.1:g.6000G>T
NG_012244.2:g.6000G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.77G>T MANE Select ENSP00000288840.5:p.Gly26Val
ENST00000288840.9:c.77G>T ENSP00000288840.5:p.Gly26Val
ENST00000557916.5:c.77G>T ENSP00000452955.1:p.Gly26Val
ENST00000612349.1:n.259G>T
NM_005585.4:c.77G>T NP_005576.3:p.Gly26Val
NR_027654.1:n.1000G>T
XR_931825.1:n.1236G>T
XR_931826.1:n.1236G>T
XR_931827.1:n.1236G>T
XR_931827.2:n.1226G>T
NM_005585.5:c.77G>T MANE Select NP_005576.3:p.Gly26Val
NR_027654.2:n.1100G>T