Canonical Allele Identifier: CA393201872

Gene: SMAD6

Linked Data

• MyVariant Identifiers: chr15:g.67073487G>C (hg19) ; chr15:g.66781149G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781149G>C , CM000677.2:g.66781149G>C	GRCh38
NC_000015.9:g.67073487G>C , CM000677.1:g.67073487G>C	GRCh37
NC_000015.8:g.64860541G>C	NCBI36
NG_012244.1:g.83814G>C
NG_012244.2:g.83814G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1105G>C MANE Select	ENSP00000288840.5:p.Gly369Arg
ENST00000288840.9:c.1105G>C	ENSP00000288840.5:p.Gly369Arg
ENST00000557916.5:c.1237G>C	ENSP00000452955.1:n.1237G>C
ENST00000559931.5:c.409G>C	ENSP00000453446.1:n.409G>C
NM_005585.4:c.1105G>C	NP_005576.3:p.Gly369Arg
NR_027654.1:n.2160G>C
XM_011521561.1:c.322G>C	XP_011519863.1:p.Gly108Arg
XR_931825.1:n.2504G>C
XM_011521561.2:c.322G>C	XP_011519863.1:p.Gly108Arg
NM_005585.5:c.1105G>C MANE Select	NP_005576.3:p.Gly369Arg
NR_027654.2:n.2260G>C