Canonical Allele Identifier: CA392948232

Gene: SMAD6

Linked Data

• gnomAD v4: 15-66703264-C-G
• MyVariant Identifiers: chr15:g.66995602C>G (hg19) ; chr15:g.66703264C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66703264C>G , CM000677.2:g.66703264C>G	GRCh38
NC_000015.9:g.66995602C>G , CM000677.1:g.66995602C>G	GRCh37
NC_000015.8:g.64782656C>G	NCBI36
NG_012244.1:g.5929C>G
NG_012244.2:g.5929C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.6C>G MANE Select	ENSP00000288840.5:p.Phe2Leu
ENST00000288840.9:c.6C>G	ENSP00000288840.5:p.Phe2Leu
ENST00000557916.5:c.6C>G	ENSP00000452955.1:p.Phe2Leu
ENST00000612349.1:n.188C>G
NM_005585.4:c.6C>G	NP_005576.3:p.Phe2Leu
NR_027654.1:n.929C>G
XR_931825.1:n.1165C>G
XR_931826.1:n.1165C>G
XR_931827.1:n.1165C>G
XR_931827.2:n.1155C>G
NM_005585.5:c.6C>G MANE Select	NP_005576.3:p.Phe2Leu
NR_027654.2:n.1029C>G