Canonical Allele Identifier: CA2184234652

Gene: SMAD6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781043C= , CM000677.2:g.66781043C=	GRCh38
NC_000015.9:g.67073381C= , CM000677.1:g.67073381C=	GRCh37
NC_000015.8:g.64860435C=	NCBI36
NG_012244.1:g.83708C=
NG_012244.2:g.83708C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.999C= MANE Select	ENSP00000288840.5:p.Ser333=
ENST00000288840.9:c.999C=	ENSP00000288840.5:p.Ser333=
ENST00000557916.5:c.1131C=	ENSP00000452955.1:n.1131C=
ENST00000559931.5:c.303C=	ENSP00000453446.1:n.303C=
NM_005585.4:c.999C=	NP_005576.3:p.Ser333=
NR_027654.1:n.2054C=
XM_011521561.1:c.216C=	XP_011519863.1:p.Ser72=
XR_931825.1:n.2398C=
XM_011521561.2:c.216C=	XP_011519863.1:p.Ser72=
NM_005585.5:c.999C= MANE Select	NP_005576.3:p.Ser333=
NR_027654.2:n.2154C=