Canonical Allele Identifier: CA490908928

Gene: SMAD6

Linked Data

• ClinVar Variation Id: 1769571
• ClinVar RCV Id: RCV002381009
• MyVariant Identifiers: chr15:g.67073408C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66781070C>G , CM000677.2:g.66781070C>G	GRCh38
NC_000015.9:g.67073408C>G , CM000677.1:g.67073408C>G	GRCh37
NC_000015.8:g.64860462C>G	NCBI36
NG_012244.1:g.83735C>G
NG_012244.2:g.83735C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.1026C>G MANE Select	ENSP00000288840.5:p.Arg342=
ENST00000288840.9:c.1026C>G	ENSP00000288840.5:p.Arg342=
ENST00000557916.5:c.1158C>G	ENSP00000452955.1:n.1158C>G
ENST00000559931.5:c.330C>G	ENSP00000453446.1:n.330C>G
NM_005585.4:c.1026C>G	NP_005576.3:p.Arg342=
NR_027654.1:n.2081C>G
XM_011521561.1:c.243C>G	XP_011519863.1:p.Arg81=
XR_931825.1:n.2425C>G
XM_011521561.2:c.243C>G	XP_011519863.1:p.Arg81=
NM_005585.5:c.1026C>G MANE Select	NP_005576.3:p.Arg342=
NR_027654.2:n.2181C>G