Canonical Allele Identifier: CA393201627

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66781035-T-C
• MyVariant Identifiers: chr15:g.67073373T>C (hg19) ; chr15:g.66781035T>C (hg38)

Genomic Alleles

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

Transcript Alleles

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