Canonical Allele Identifier: CA2184234644

Gene: SMAD6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781039G= , CM000677.2:g.66781039G=	GRCh38
NC_000015.9:g.67073377G= , CM000677.1:g.67073377G=	GRCh37
NC_000015.8:g.64860431G=	NCBI36
NG_012244.1:g.83704G=
NG_012244.2:g.83704G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.995G= MANE Select	ENSP00000288840.5:p.Cys332=
ENST00000288840.9:c.995G=	ENSP00000288840.5:p.Cys332=
ENST00000557916.5:c.1127G=	ENSP00000452955.1:n.1127G=
ENST00000559931.5:c.299G=	ENSP00000453446.1:n.299G=
NM_005585.4:c.995G=	NP_005576.3:p.Cys332=
NR_027654.1:n.2050G=
XM_011521561.1:c.212G=	XP_011519863.1:p.Cys71=
XR_931825.1:n.2394G=
XM_011521561.2:c.212G=	XP_011519863.1:p.Cys71=
NM_005585.5:c.995G= MANE Select	NP_005576.3:p.Cys332=
NR_027654.2:n.2150G=