Canonical Allele Identifier: CA392948335
Gene: SMAD6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1174550
ClinVar RCV Id: RCV001799772
dbSNP Id: rs1893016936
MyVariant Identifiers: chr15:g.66995634T>A (hg19) chr15:g.66703296T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66703296T>A , CM000677.2:g.66703296T>A GRCh38
NC_000015.9:g.66995634T>A , CM000677.1:g.66995634T>A GRCh37
NC_000015.8:g.64782688T>A NCBI36
NG_012244.1:g.5961T>A
NG_012244.2:g.5961T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000288840.10:c.38T>A MANE Select ENSP00000288840.5:p.Leu13His
ENST00000288840.9:c.38T>A ENSP00000288840.5:p.Leu13His
ENST00000557916.5:c.38T>A ENSP00000452955.1:p.Leu13His
ENST00000612349.1:n.220T>A
NM_005585.4:c.38T>A NP_005576.3:p.Leu13His
NR_027654.1:n.961T>A
XR_931825.1:n.1197T>A
XR_931826.1:n.1197T>A
XR_931827.1:n.1197T>A
XR_931827.2:n.1187T>A
NM_005585.5:c.38T>A MANE Select NP_005576.3:p.Leu13His
NR_027654.2:n.1061T>A
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