Canonical Allele Identifier: CA393201668

Gene: SMAD6

Linked Data

• dbSNP Id: rs1403845620
• gnomAD v2: 15-67073391-T-C
• gnomAD v4: 15-66781053-T-C
• MyVariant Identifiers: chr15:g.67073391T>C (hg19) ; chr15:g.66781053T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781053T>C , CM000677.2:g.66781053T>C	GRCh38
NC_000015.9:g.67073391T>C , CM000677.1:g.67073391T>C	GRCh37
NC_000015.8:g.64860445T>C	NCBI36
NG_012244.1:g.83718T>C
NG_012244.2:g.83718T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1009T>C MANE Select	ENSP00000288840.5:p.Trp337Arg
ENST00000288840.9:c.1009T>C	ENSP00000288840.5:p.Trp337Arg
ENST00000557916.5:c.1141T>C	ENSP00000452955.1:n.1141T>C
ENST00000559931.5:c.313T>C	ENSP00000453446.1:n.313T>C
NM_005585.4:c.1009T>C	NP_005576.3:p.Trp337Arg
NR_027654.1:n.2064T>C
XM_011521561.1:c.226T>C	XP_011519863.1:p.Trp76Arg
XR_931825.1:n.2408T>C
XM_011521561.2:c.226T>C	XP_011519863.1:p.Trp76Arg
NM_005585.5:c.1009T>C MANE Select	NP_005576.3:p.Trp337Arg
NR_027654.2:n.2164T>C