Canonical Allele Identifier: CA392948222

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66703262-T-A
• MyVariant Identifiers: chr15:g.66995600T>A (hg19) ; chr15:g.66703262T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703262T>A , CM000677.2:g.66703262T>A	GRCh38
NC_000015.9:g.66995600T>A , CM000677.1:g.66995600T>A	GRCh37
NC_000015.8:g.64782654T>A	NCBI36
NG_012244.1:g.5927T>A
NG_012244.2:g.5927T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.4T>A MANE Select	ENSP00000288840.5:p.Phe2Ile
ENST00000288840.9:c.4T>A	ENSP00000288840.5:p.Phe2Ile
ENST00000557916.5:c.4T>A	ENSP00000452955.1:p.Phe2Ile
ENST00000612349.1:n.186T>A
NM_005585.4:c.4T>A	NP_005576.3:p.Phe2Ile
NR_027654.1:n.927T>A
XR_931825.1:n.1163T>A
XR_931826.1:n.1163T>A
XR_931827.1:n.1163T>A
XR_931827.2:n.1153T>A
NM_005585.5:c.4T>A MANE Select	NP_005576.3:p.Phe2Ile
NR_027654.2:n.1027T>A