Canonical Allele Identifier: CA392948312
Gene: SMAD6 HGNC NCBI

Linked Data

ClinVar Variation Id: 2742462
ClinVar RCV Id: RCV003531661
dbSNP Id: rs1426799911
gnomAD v3: 15-66703287-T-G
gnomAD v4: 15-66703287-T-G
MyVariant Identifiers: chr15:g.66995625T>G (hg19) chr15:g.66703287T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66703287T>G , CM000677.2:g.66703287T>G GRCh38
NC_000015.9:g.66995625T>G , CM000677.1:g.66995625T>G GRCh37
NC_000015.8:g.64782679T>G NCBI36
NG_012244.1:g.5952T>G
NG_012244.2:g.5952T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.29T>G MANE Select ENSP00000288840.5:p.Val10Gly
ENST00000288840.9:c.29T>G ENSP00000288840.5:p.Val10Gly
ENST00000557916.5:c.29T>G ENSP00000452955.1:p.Val10Gly
ENST00000612349.1:n.211T>G
NM_005585.4:c.29T>G NP_005576.3:p.Val10Gly
NR_027654.1:n.952T>G
XR_931825.1:n.1188T>G
XR_931826.1:n.1188T>G
XR_931827.1:n.1188T>G
XR_931827.2:n.1178T>G
NM_005585.5:c.29T>G MANE Select NP_005576.3:p.Val10Gly
NR_027654.2:n.1052T>G
Search 100 bp 5'
Search 100 bp 3'