Canonical Allele Identifier: CA2184234693

Gene: SMAD6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781098C= , CM000677.2:g.66781098C=	GRCh38
NC_000015.9:g.67073436C= , CM000677.1:g.67073436C=	GRCh37
NC_000015.8:g.64860490C=	NCBI36
NG_012244.1:g.83763C=
NG_012244.2:g.83763C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1054C= MANE Select	ENSP00000288840.5:p.Gln352=
ENST00000288840.9:c.1054C=	ENSP00000288840.5:p.Gln352=
ENST00000557916.5:c.1186C=	ENSP00000452955.1:n.1186C=
ENST00000559931.5:c.358C=	ENSP00000453446.1:n.358C=
NM_005585.4:c.1054C=	NP_005576.3:p.Gln352=
NR_027654.1:n.2109C=
XM_011521561.1:c.271C=	XP_011519863.1:p.Gln91=
XR_931825.1:n.2453C=
XM_011521561.2:c.271C=	XP_011519863.1:p.Gln91=
NM_005585.5:c.1054C= MANE Select	NP_005576.3:p.Gln352=
NR_027654.2:n.2209C=