Canonical Allele Identifier: CA392948323

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66703292-C-G
• MyVariant Identifiers: chr15:g.66995630C>G (hg19) ; chr15:g.66703292C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703292C>G , CM000677.2:g.66703292C>G	GRCh38
NC_000015.9:g.66995630C>G , CM000677.1:g.66995630C>G	GRCh37
NC_000015.8:g.64782684C>G	NCBI36
NG_012244.1:g.5957C>G
NG_012244.2:g.5957C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.34C>G MANE Select	ENSP00000288840.5:p.Arg12Gly
ENST00000288840.9:c.34C>G	ENSP00000288840.5:p.Arg12Gly
ENST00000557916.5:c.34C>G	ENSP00000452955.1:p.Arg12Gly
ENST00000612349.1:n.216C>G
NM_005585.4:c.34C>G	NP_005576.3:p.Arg12Gly
NR_027654.1:n.957C>G
XR_931825.1:n.1193C>G
XR_931826.1:n.1193C>G
XR_931827.1:n.1193C>G
XR_931827.2:n.1183C>G
NM_005585.5:c.34C>G MANE Select	NP_005576.3:p.Arg12Gly
NR_027654.2:n.1057C>G