Canonical Allele Identifier: CA393201626

Gene: SMAD6

Linked Data

• dbSNP Id: rs1348334764
• gnomAD v2: 15-67073373-T-A
• gnomAD v3: 15-66781035-T-A
• gnomAD v4: 15-66781035-T-A
• MyVariant Identifiers: chr15:g.67073373T>A (hg19) ; chr15:g.66781035T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781035T>A , CM000677.2:g.66781035T>A	GRCh38
NC_000015.9:g.67073373T>A , CM000677.1:g.67073373T>A	GRCh37
NC_000015.8:g.64860427T>A	NCBI36
NG_012244.1:g.83700T>A
NG_012244.2:g.83700T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.991T>A MANE Select	ENSP00000288840.5:p.Trp331Arg
ENST00000288840.9:c.991T>A	ENSP00000288840.5:p.Trp331Arg
ENST00000557916.5:c.1123T>A	ENSP00000452955.1:n.1123T>A
ENST00000559931.5:c.295T>A	ENSP00000453446.1:n.295T>A
NM_005585.4:c.991T>A	NP_005576.3:p.Trp331Arg
NR_027654.1:n.2046T>A
XM_011521561.1:c.208T>A	XP_011519863.1:p.Trp70Arg
XR_931825.1:n.2390T>A
XM_011521561.2:c.208T>A	XP_011519863.1:p.Trp70Arg
NM_005585.5:c.991T>A MANE Select	NP_005576.3:p.Trp331Arg
NR_027654.2:n.2146T>A