Canonical Allele Identifier: CA490908965

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66781103-C-A
• MyVariant Identifiers: chr15:g.67073441C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781103C>A , CM000677.2:g.66781103C>A	GRCh38
NC_000015.9:g.67073441C>A , CM000677.1:g.67073441C>A	GRCh37
NC_000015.8:g.64860495C>A	NCBI36
NG_012244.1:g.83768C>A
NG_012244.2:g.83768C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1059C>A MANE Select	ENSP00000288840.5:p.Ala353=
ENST00000288840.9:c.1059C>A	ENSP00000288840.5:p.Ala353=
ENST00000557916.5:c.1191C>A	ENSP00000452955.1:n.1191C>A
ENST00000559931.5:c.363C>A	ENSP00000453446.1:n.363C>A
NM_005585.4:c.1059C>A	NP_005576.3:p.Ala353=
NR_027654.1:n.2114C>A
XM_011521561.1:c.276C>A	XP_011519863.1:p.Ala92=
XR_931825.1:n.2458C>A
XM_011521561.2:c.276C>A	XP_011519863.1:p.Ala92=
NM_005585.5:c.1059C>A MANE Select	NP_005576.3:p.Ala353=
NR_027654.2:n.2214C>A