Canonical Allele Identifier: CA393201615
Gene: SMAD6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66781030G>A , CM000677.2:g.66781030G>A GRCh38
NC_000015.9:g.67073368G>A , CM000677.1:g.67073368G>A GRCh37
NC_000015.8:g.64860422G>A NCBI36
NG_012244.1:g.83695G>A
NG_012244.2:g.83695G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.986G>A MANE Select ENSP00000288840.5:p.Ser329Asn
ENST00000288840.9:c.986G>A ENSP00000288840.5:p.Ser329Asn
ENST00000557916.5:c.1118G>A ENSP00000452955.1:n.1118G>A
ENST00000559931.5:c.290G>A ENSP00000453446.1:n.290G>A
NM_005585.4:c.986G>A NP_005576.3:p.Ser329Asn
NR_027654.1:n.2041G>A
XM_011521561.1:c.203G>A XP_011519863.1:p.Ser68Asn
XR_931825.1:n.2385G>A
XM_011521561.2:c.203G>A XP_011519863.1:p.Ser68Asn
NM_005585.5:c.986G>A MANE Select NP_005576.3:p.Ser329Asn
NR_027654.2:n.2141G>A