Canonical Allele Identifier: CA490907704

Gene: SMAD6

Linked Data

• MyVariant Identifiers: chr15:g.66995632A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703294A>C , CM000677.2:g.66703294A>C	GRCh38
NC_000015.9:g.66995632A>C , CM000677.1:g.66995632A>C	GRCh37
NC_000015.8:g.64782686A>C	NCBI36
NG_012244.1:g.5959A>C
NG_012244.2:g.5959A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.36A>C MANE Select	ENSP00000288840.5:p.Arg12=
ENST00000288840.9:c.36A>C	ENSP00000288840.5:p.Arg12=
ENST00000557916.5:c.36A>C	ENSP00000452955.1:p.Arg12=
ENST00000612349.1:n.218A>C
NM_005585.4:c.36A>C	NP_005576.3:p.Arg12=
NR_027654.1:n.959A>C
XR_931825.1:n.1195A>C
XR_931826.1:n.1195A>C
XR_931827.1:n.1195A>C
XR_931827.2:n.1185A>C
NM_005585.5:c.36A>C MANE Select	NP_005576.3:p.Arg12=
NR_027654.2:n.1059A>C