Canonical Allele Identifier: CA392948409
Gene: SMAD6 HGNC NCBI

Linked Data

dbSNP Id: rs1272318834
gnomAD v2: 15-66995655-C-G
gnomAD v3: 15-66703317-C-G
gnomAD v4: 15-66703317-C-G
MyVariant Identifiers: chr15:g.66995655C>G (hg19) chr15:g.66703317C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66703317C>G , CM000677.2:g.66703317C>G GRCh38
NC_000015.9:g.66995655C>G , CM000677.1:g.66995655C>G GRCh37
NC_000015.8:g.64782709C>G NCBI36
NG_012244.1:g.5982C>G
NG_012244.2:g.5982C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.59C>G MANE Select ENSP00000288840.5:p.Pro20Arg
ENST00000288840.9:c.59C>G ENSP00000288840.5:p.Pro20Arg
ENST00000557916.5:c.59C>G ENSP00000452955.1:p.Pro20Arg
ENST00000612349.1:n.241C>G
NM_005585.4:c.59C>G NP_005576.3:p.Pro20Arg
NR_027654.1:n.982C>G
XR_931825.1:n.1218C>G
XR_931826.1:n.1218C>G
XR_931827.1:n.1218C>G
XR_931827.2:n.1208C>G
NM_005585.5:c.59C>G MANE Select NP_005576.3:p.Pro20Arg
NR_027654.2:n.1082C>G
Search 100 bp 5'
Search 100 bp 3'