Canonical Allele Identifier: CA490907725

Gene: SMAD6

Linked Data

• MyVariant Identifiers: chr15:g.66995656C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703318C>G , CM000677.2:g.66703318C>G	GRCh38
NC_000015.9:g.66995656C>G , CM000677.1:g.66995656C>G	GRCh37
NC_000015.8:g.64782710C>G	NCBI36
NG_012244.1:g.5983C>G
NG_012244.2:g.5983C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.60C>G MANE Select	ENSP00000288840.5:p.Pro20=
ENST00000288840.9:c.60C>G	ENSP00000288840.5:p.Pro20=
ENST00000557916.5:c.60C>G	ENSP00000452955.1:p.Pro20=
ENST00000612349.1:n.242C>G
NM_005585.4:c.60C>G	NP_005576.3:p.Pro20=
NR_027654.1:n.983C>G
XR_931825.1:n.1219C>G
XR_931826.1:n.1219C>G
XR_931827.1:n.1219C>G
XR_931827.2:n.1209C>G
NM_005585.5:c.60C>G MANE Select	NP_005576.3:p.Pro20=
NR_027654.2:n.1083C>G