Canonical Allele Identifier: CA393201654

Gene: SMAD6

Linked Data

• dbSNP Id: rs1165362355
• gnomAD v2: 15-67073385-G-A
• gnomAD v4: 15-66781047-G-A
• MyVariant Identifiers: chr15:g.67073385G>A (hg19) ; chr15:g.66781047G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781047G>A , CM000677.2:g.66781047G>A	GRCh38
NC_000015.9:g.67073385G>A , CM000677.1:g.67073385G>A	GRCh37
NC_000015.8:g.64860439G>A	NCBI36
NG_012244.1:g.83712G>A
NG_012244.2:g.83712G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1003G>A MANE Select	ENSP00000288840.5:p.Ala335Thr
ENST00000288840.9:c.1003G>A	ENSP00000288840.5:p.Ala335Thr
ENST00000557916.5:c.1135G>A	ENSP00000452955.1:n.1135G>A
ENST00000559931.5:c.307G>A	ENSP00000453446.1:n.307G>A
NM_005585.4:c.1003G>A	NP_005576.3:p.Ala335Thr
NR_027654.1:n.2058G>A
XM_011521561.1:c.220G>A	XP_011519863.1:p.Ala74Thr
XR_931825.1:n.2402G>A
XM_011521561.2:c.220G>A	XP_011519863.1:p.Ala74Thr
NM_005585.5:c.1003G>A MANE Select	NP_005576.3:p.Ala335Thr
NR_027654.2:n.2158G>A