Canonical Allele Identifier: CA490907722

Gene: SMAD6

Linked Data

• MyVariant Identifiers: chr15:g.66995653C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703315C>G , CM000677.2:g.66703315C>G	GRCh38
NC_000015.9:g.66995653C>G , CM000677.1:g.66995653C>G	GRCh37
NC_000015.8:g.64782707C>G	NCBI36
NG_012244.1:g.5980C>G
NG_012244.2:g.5980C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.57C>G MANE Select	ENSP00000288840.5:p.Val19=
ENST00000288840.9:c.57C>G	ENSP00000288840.5:p.Val19=
ENST00000557916.5:c.57C>G	ENSP00000452955.1:p.Val19=
ENST00000612349.1:n.239C>G
NM_005585.4:c.57C>G	NP_005576.3:p.Val19=
NR_027654.1:n.980C>G
XR_931825.1:n.1216C>G
XR_931826.1:n.1216C>G
XR_931827.1:n.1216C>G
XR_931827.2:n.1206C>G
NM_005585.5:c.57C>G MANE Select	NP_005576.3:p.Val19=
NR_027654.2:n.1080C>G