Canonical Allele Identifier: CA392948408

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66703317-C-A
• MyVariant Identifiers: chr15:g.66995655C>A (hg19) ; chr15:g.66703317C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703317C>A , CM000677.2:g.66703317C>A	GRCh38
NC_000015.9:g.66995655C>A , CM000677.1:g.66995655C>A	GRCh37
NC_000015.8:g.64782709C>A	NCBI36
NG_012244.1:g.5982C>A
NG_012244.2:g.5982C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.59C>A MANE Select	ENSP00000288840.5:p.Pro20His
ENST00000288840.9:c.59C>A	ENSP00000288840.5:p.Pro20His
ENST00000557916.5:c.59C>A	ENSP00000452955.1:p.Pro20His
ENST00000612349.1:n.241C>A
NM_005585.4:c.59C>A	NP_005576.3:p.Pro20His
NR_027654.1:n.982C>A
XR_931825.1:n.1218C>A
XR_931826.1:n.1218C>A
XR_931827.1:n.1218C>A
XR_931827.2:n.1208C>A
NM_005585.5:c.59C>A MANE Select	NP_005576.3:p.Pro20His
NR_027654.2:n.1082C>A