Canonical Allele Identifier: CA2184234662

Gene: SMAD6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781052C= , CM000677.2:g.66781052C=	GRCh38
NC_000015.9:g.67073390C= , CM000677.1:g.67073390C=	GRCh37
NC_000015.8:g.64860444C=	NCBI36
NG_012244.1:g.83717C=
NG_012244.2:g.83717C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1008C= MANE Select	ENSP00000288840.5:p.Tyr336=
ENST00000288840.9:c.1008C=	ENSP00000288840.5:p.Tyr336=
ENST00000557916.5:c.1140C=	ENSP00000452955.1:n.1140C=
ENST00000559931.5:c.312C=	ENSP00000453446.1:n.312C=
NM_005585.4:c.1008C=	NP_005576.3:p.Tyr336=
NR_027654.1:n.2063C=
XM_011521561.1:c.225C=	XP_011519863.1:p.Tyr75=
XR_931825.1:n.2407C=
XM_011521561.2:c.225C=	XP_011519863.1:p.Tyr75=
NM_005585.5:c.1008C= MANE Select	NP_005576.3:p.Tyr336=
NR_027654.2:n.2163C=