Canonical Allele Identifier: CA392948434
Gene: SMAD6 HGNC NCBI

Linked Data

ClinVar Variation Id: 2587748
ClinVar RCV Id: RCV003360978
dbSNP Id: rs1370564947
gnomAD v4: 15-66703325-G-A
MyVariant Identifiers: chr15:g.66995663G>A (hg19) chr15:g.66703325G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66703325G>A , CM000677.2:g.66703325G>A GRCh38
NC_000015.9:g.66995663G>A , CM000677.1:g.66995663G>A GRCh37
NC_000015.8:g.64782717G>A NCBI36
NG_012244.1:g.5990G>A
NG_012244.2:g.5990G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.67G>A MANE Select ENSP00000288840.5:p.Glu23Lys
ENST00000288840.9:c.67G>A ENSP00000288840.5:p.Glu23Lys
ENST00000557916.5:c.67G>A ENSP00000452955.1:p.Glu23Lys
ENST00000612349.1:n.249G>A
NM_005585.4:c.67G>A NP_005576.3:p.Glu23Lys
NR_027654.1:n.990G>A
XR_931825.1:n.1226G>A
XR_931826.1:n.1226G>A
XR_931827.1:n.1226G>A
XR_931827.2:n.1216G>A
NM_005585.5:c.67G>A MANE Select NP_005576.3:p.Glu23Lys
NR_027654.2:n.1090G>A
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Search 100 bp 3'