Canonical Allele Identifier: CA2184234688

Gene: SMAD6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781087C= , CM000677.2:g.66781087C=	GRCh38
NC_000015.9:g.67073425C= , CM000677.1:g.67073425C=	GRCh37
NC_000015.8:g.64860479C=	NCBI36
NG_012244.1:g.83752C=
NG_012244.2:g.83752C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1043C= MANE Select	ENSP00000288840.5:p.Ala348=
ENST00000288840.9:c.1043C=	ENSP00000288840.5:p.Ala348=
ENST00000557916.5:c.1175C=	ENSP00000452955.1:n.1175C=
ENST00000559931.5:c.347C=	ENSP00000453446.1:n.347C=
NM_005585.4:c.1043C=	NP_005576.3:p.Ala348=
NR_027654.1:n.2098C=
XM_011521561.1:c.260C=	XP_011519863.1:p.Ala87=
XR_931825.1:n.2442C=
XM_011521561.2:c.260C=	XP_011519863.1:p.Ala87=
NM_005585.5:c.1043C= MANE Select	NP_005576.3:p.Ala348=
NR_027654.2:n.2198C=