Canonical Allele Identifier: CA392948429

Gene: SMAD6

Linked Data

• ClinVar Variation Id: 2291403
• ClinVar RCV Id: RCV002837465
• gnomAD v4: 15-66703323-G-A
• MyVariant Identifiers: chr15:g.66995661G>A (hg19) ; chr15:g.66703323G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703323G>A , CM000677.2:g.66703323G>A	GRCh38
NC_000015.9:g.66995661G>A , CM000677.1:g.66995661G>A	GRCh37
NC_000015.8:g.64782715G>A	NCBI36
NG_012244.1:g.5988G>A
NG_012244.2:g.5988G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.65G>A MANE Select	ENSP00000288840.5:p.Arg22Gln
ENST00000288840.9:c.65G>A	ENSP00000288840.5:p.Arg22Gln
ENST00000557916.5:c.65G>A	ENSP00000452955.1:p.Arg22Gln
ENST00000612349.1:n.247G>A
NM_005585.4:c.65G>A	NP_005576.3:p.Arg22Gln
NR_027654.1:n.988G>A
XR_931825.1:n.1224G>A
XR_931826.1:n.1224G>A
XR_931827.1:n.1224G>A
XR_931827.2:n.1214G>A
NM_005585.5:c.65G>A MANE Select	NP_005576.3:p.Arg22Gln
NR_027654.2:n.1088G>A