Canonical Allele Identifier: CA7626420
Gene: SMAD6 HGNC NCBI

Linked Data

ClinVar Variation Id: 413448
ClinVar RCV Id: RCV000474525 RCV001584176 RCV002356726 RCV003230507
dbSNP Id: rs188799901
ExAC: 15:66995657 G / A
gnomAD v2: 15-66995657-G-A
gnomAD v3: 15-66703319-G-A
gnomAD v4: 15-66703319-G-A
MyVariant Identifiers: chr15:g.66995657G>A (hg19) chr15:g.66703319G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66703319G>A , CM000677.2:g.66703319G>A GRCh38
NC_000015.9:g.66995657G>A , CM000677.1:g.66995657G>A GRCh37
NC_000015.8:g.64782711G>A NCBI36
NG_012244.1:g.5984G>A
NG_012244.2:g.5984G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000288840.10:c.61G>A MANE Select ENSP00000288840.5:p.Asp21Asn
ENST00000288840.9:c.61G>A ENSP00000288840.5:p.Asp21Asn
ENST00000557916.5:c.61G>A ENSP00000452955.1:p.Asp21Asn
ENST00000612349.1:n.243G>A
NM_005585.4:c.61G>A NP_005576.3:p.Asp21Asn
NR_027654.1:n.984G>A
XR_931825.1:n.1220G>A
XR_931826.1:n.1220G>A
XR_931827.1:n.1220G>A
XR_931827.2:n.1210G>A
NM_005585.5:c.61G>A MANE Select NP_005576.3:p.Asp21Asn
NR_027654.2:n.1084G>A
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