Canonical Allele Identifier: CA393201771
Gene: SMAD6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1425142
ClinVar RCV Id: RCV001924299
dbSNP Id: rs1315294969
gnomAD v2: 15-67073439-G-A
gnomAD v3: 15-66781101-G-A
gnomAD v4: 15-66781101-G-A
MyVariant Identifiers: chr15:g.67073439G>A (hg19) chr15:g.66781101G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66781101G>A , CM000677.2:g.66781101G>A GRCh38
NC_000015.9:g.67073439G>A , CM000677.1:g.67073439G>A GRCh37
NC_000015.8:g.64860493G>A NCBI36
NG_012244.1:g.83766G>A
NG_012244.2:g.83766G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.1057G>A MANE Select ENSP00000288840.5:p.Ala353Thr
ENST00000288840.9:c.1057G>A ENSP00000288840.5:p.Ala353Thr
ENST00000557916.5:c.1189G>A ENSP00000452955.1:n.1189G>A
ENST00000559931.5:c.361G>A ENSP00000453446.1:n.361G>A
NM_005585.4:c.1057G>A NP_005576.3:p.Ala353Thr
NR_027654.1:n.2112G>A
XM_011521561.1:c.274G>A XP_011519863.1:p.Ala92Thr
XR_931825.1:n.2456G>A
XM_011521561.2:c.274G>A XP_011519863.1:p.Ala92Thr
NM_005585.5:c.1057G>A MANE Select NP_005576.3:p.Ala353Thr
NR_027654.2:n.2212G>A
Search 100 bp 5'
Search 100 bp 3'