Canonical Allele Identifier: CA2184234642

Gene: SMAD6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781037G= , CM000677.2:g.66781037G=	GRCh38
NC_000015.9:g.67073375G= , CM000677.1:g.67073375G=	GRCh37
NC_000015.8:g.64860429G=	NCBI36
NG_012244.1:g.83702G=
NG_012244.2:g.83702G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.993G= MANE Select	ENSP00000288840.5:p.Trp331=
ENST00000288840.9:c.993G=	ENSP00000288840.5:p.Trp331=
ENST00000557916.5:c.1125G=	ENSP00000452955.1:n.1125G=
ENST00000559931.5:c.297G=	ENSP00000453446.1:n.297G=
NM_005585.4:c.993G=	NP_005576.3:p.Trp331=
NR_027654.1:n.2048G=
XM_011521561.1:c.210G=	XP_011519863.1:p.Trp70=
XR_931825.1:n.2392G=
XM_011521561.2:c.210G=	XP_011519863.1:p.Trp70=
NM_005585.5:c.993G= MANE Select	NP_005576.3:p.Trp331=
NR_027654.2:n.2148G=