Canonical Allele Identifier: CA393201654
Gene: SMAD6 HGNC NCBI

Linked Data

dbSNP Id: rs1165362355

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66781047G>A , CM000677.2:g.66781047G>A GRCh38
NC_000015.9:g.67073385G>A , CM000677.1:g.67073385G>A GRCh37
NC_000015.8:g.64860439G>A NCBI36
NG_012244.1:g.83712G>A
NG_012244.2:g.83712G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.1003G>A MANE Select ENSP00000288840.5:p.Ala335Thr
ENST00000288840.9:c.1003G>A ENSP00000288840.5:p.Ala335Thr
ENST00000557916.5:c.1135G>A ENSP00000452955.1:n.1135G>A
ENST00000559931.5:c.307G>A ENSP00000453446.1:n.307G>A
NM_005585.4:c.1003G>A NP_005576.3:p.Ala335Thr
NR_027654.1:n.2058G>A
XM_011521561.1:c.220G>A XP_011519863.1:p.Ala74Thr
XR_931825.1:n.2402G>A
XM_011521561.2:c.220G>A XP_011519863.1:p.Ala74Thr
NM_005585.5:c.1003G>A MANE Select NP_005576.3:p.Ala335Thr
NR_027654.2:n.2158G>A