Canonical Allele Identifier: CA7626698
Gene: SMAD6 HGNC NCBI

Linked Data

ClinVar Variation Id: 405517
ClinVar RCV Id: RCV000474575 RCV002244931 RCV003392270
dbSNP Id: rs199822239
ExAC: 15:67073355 G / A
gnomAD v2: 15-67073355-G-A
gnomAD v3: 15-66781017-G-A
gnomAD v4: 15-66781017-G-A
MyVariant Identifiers: chr15:g.67073355G>A (hg19) chr15:g.66781017G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66781017G>A , CM000677.2:g.66781017G>A GRCh38
NC_000015.9:g.67073355G>A , CM000677.1:g.67073355G>A GRCh37
NC_000015.8:g.64860409G>A NCBI36
NG_012244.1:g.83682G>A
NG_012244.2:g.83682G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.973G>A MANE Select ENSP00000288840.5:p.Ala325Thr
ENST00000288840.9:c.973G>A ENSP00000288840.5:p.Ala325Thr
ENST00000557916.5:c.1105G>A ENSP00000452955.1:n.1105G>A
ENST00000559931.5:c.277G>A ENSP00000453446.1:n.277G>A
NM_005585.4:c.973G>A NP_005576.3:p.Ala325Thr
NR_027654.1:n.2028G>A
XM_011521561.1:c.190G>A XP_011519863.1:p.Ala64Thr
XR_931825.1:n.2372G>A
XM_011521561.2:c.190G>A XP_011519863.1:p.Ala64Thr
NM_005585.5:c.973G>A MANE Select NP_005576.3:p.Ala325Thr
NR_027654.2:n.2128G>A
Search 100 bp 5'
Search 100 bp 3'