Canonical Allele Identifier: CA2184234682

Gene: SMAD6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781082C= , CM000677.2:g.66781082C=	GRCh38
NC_000015.9:g.67073420C= , CM000677.1:g.67073420C=	GRCh37
NC_000015.8:g.64860474C=	NCBI36
NG_012244.1:g.83747C=
NG_012244.2:g.83747C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1038C= MANE Select	ENSP00000288840.5:p.Leu346=
ENST00000288840.9:c.1038C=	ENSP00000288840.5:p.Leu346=
ENST00000557916.5:c.1170C=	ENSP00000452955.1:n.1170C=
ENST00000559931.5:c.342C=	ENSP00000453446.1:n.342C=
NM_005585.4:c.1038C=	NP_005576.3:p.Leu346=
NR_027654.1:n.2093C=
XM_011521561.1:c.255C=	XP_011519863.1:p.Leu85=
XR_931825.1:n.2437C=
XM_011521561.2:c.255C=	XP_011519863.1:p.Leu85=
NM_005585.5:c.1038C= MANE Select	NP_005576.3:p.Leu346=
NR_027654.2:n.2193C=