Canonical Allele Identifier: CA392948406

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66703316-C-A
• MyVariant Identifiers: chr15:g.66995654C>A (hg19) ; chr15:g.66703316C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703316C>A , CM000677.2:g.66703316C>A	GRCh38
NC_000015.9:g.66995654C>A , CM000677.1:g.66995654C>A	GRCh37
NC_000015.8:g.64782708C>A	NCBI36
NG_012244.1:g.5981C>A
NG_012244.2:g.5981C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.58C>A MANE Select	ENSP00000288840.5:p.Pro20Thr
ENST00000288840.9:c.58C>A	ENSP00000288840.5:p.Pro20Thr
ENST00000557916.5:c.58C>A	ENSP00000452955.1:p.Pro20Thr
ENST00000612349.1:n.240C>A
NM_005585.4:c.58C>A	NP_005576.3:p.Pro20Thr
NR_027654.1:n.981C>A
XR_931825.1:n.1217C>A
XR_931826.1:n.1217C>A
XR_931827.1:n.1217C>A
XR_931827.2:n.1207C>A
NM_005585.5:c.58C>A MANE Select	NP_005576.3:p.Pro20Thr
NR_027654.2:n.1081C>A