Canonical Allele Identifier: CA393201648
Gene: SMAD6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1750271
ClinVar RCV Id: RCV002353538
dbSNP Id: rs772926628
gnomAD v2: 15-67073382-G-A
gnomAD v3: 15-66781044-G-A
gnomAD v4: 15-66781044-G-A
MyVariant Identifiers: chr15:g.67073382G>A (hg19) chr15:g.66781044G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66781044G>A , CM000677.2:g.66781044G>A GRCh38
NC_000015.9:g.67073382G>A , CM000677.1:g.67073382G>A GRCh37
NC_000015.8:g.64860436G>A NCBI36
NG_012244.1:g.83709G>A
NG_012244.2:g.83709G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.1000G>A MANE Select ENSP00000288840.5:p.Val334Met
ENST00000288840.9:c.1000G>A ENSP00000288840.5:p.Val334Met
ENST00000557916.5:c.1132G>A ENSP00000452955.1:n.1132G>A
ENST00000559931.5:c.304G>A ENSP00000453446.1:n.304G>A
NM_005585.4:c.1000G>A NP_005576.3:p.Val334Met
NR_027654.1:n.2055G>A
XM_011521561.1:c.217G>A XP_011519863.1:p.Val73Met
XR_931825.1:n.2399G>A
XM_011521561.2:c.217G>A XP_011519863.1:p.Val73Met
NM_005585.5:c.1000G>A MANE Select NP_005576.3:p.Val334Met
NR_027654.2:n.2155G>A
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