Canonical Allele Identifier: CA2184234684

Gene: SMAD6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781084A= , CM000677.2:g.66781084A=	GRCh38
NC_000015.9:g.67073422A= , CM000677.1:g.67073422A=	GRCh37
NC_000015.8:g.64860476A=	NCBI36
NG_012244.1:g.83749A=
NG_012244.2:g.83749A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1040A= MANE Select	ENSP00000288840.5:p.Tyr347=
ENST00000288840.9:c.1040A=	ENSP00000288840.5:p.Tyr347=
ENST00000557916.5:c.1172A=	ENSP00000452955.1:n.1172A=
ENST00000559931.5:c.344A=	ENSP00000453446.1:n.344A=
NM_005585.4:c.1040A=	NP_005576.3:p.Tyr347=
NR_027654.1:n.2095A=
XM_011521561.1:c.257A=	XP_011519863.1:p.Tyr86=
XR_931825.1:n.2439A=
XM_011521561.2:c.257A=	XP_011519863.1:p.Tyr86=
NM_005585.5:c.1040A= MANE Select	NP_005576.3:p.Tyr347=
NR_027654.2:n.2195A=