Canonical Allele Identifier: CA2184234724

Gene: SMAD6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781145C= , CM000677.2:g.66781145C=	GRCh38
NC_000015.9:g.67073483C= , CM000677.1:g.67073483C=	GRCh37
NC_000015.8:g.64860537C=	NCBI36
NG_012244.1:g.83810C=
NG_012244.2:g.83810C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1101C= MANE Select	ENSP00000288840.5:p.Cys367=
ENST00000288840.9:c.1101C=	ENSP00000288840.5:p.Cys367=
ENST00000557916.5:c.1233C=	ENSP00000452955.1:n.1233C=
ENST00000559931.5:c.405C=	ENSP00000453446.1:n.405C=
NM_005585.4:c.1101C=	NP_005576.3:p.Cys367=
NR_027654.1:n.2156C=
XM_011521561.1:c.318C=	XP_011519863.1:p.Cys106=
XR_931825.1:n.2500C=
XM_011521561.2:c.318C=	XP_011519863.1:p.Cys106=
NM_005585.5:c.1101C= MANE Select	NP_005576.3:p.Cys367=
NR_027654.2:n.2256C=