Canonical Allele Identifier: CA2629100845

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66703209-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703209C>A , CM000677.2:g.66703209C>A	GRCh38
NC_000015.9:g.66995547C>A , CM000677.1:g.66995547C>A	GRCh37
NC_000015.8:g.64782601C>A	NCBI36
NG_012244.1:g.5874C>A
NG_012244.2:g.5874C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.-50C>A MANE Select	ENSP00000288840.5:n.-50C>A
ENST00000288840.9:c.-50C>A	ENSP00000288840.5:n.-50C>A
ENST00000612349.1:n.133C>A
NM_005585.4:c.-50C>A	NP_005576.3:n.-50C>A
NR_027654.1:n.874C>A
XR_931825.1:n.1110C>A
XR_931826.1:n.1110C>A
XR_931827.1:n.1110C>A
XR_931827.2:n.1100C>A
NM_005585.5:c.-50C>A MANE Select	NP_005576.3:n.-50C>A
NR_027654.2:n.974C>A