Canonical Allele Identifier: CA2629100808
Gene: SMAD6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66703181C>G , CM000677.2:g.66703181C>G GRCh38
NC_000015.9:g.66995519C>G , CM000677.1:g.66995519C>G GRCh37
NC_000015.8:g.64782573C>G NCBI36
NG_012244.1:g.5846C>G
NG_012244.2:g.5846C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.-78C>G MANE Select ENSP00000288840.5:n.-78C>G
ENST00000288840.9:c.-78C>G ENSP00000288840.5:n.-78C>G
ENST00000612349.1:n.105C>G
NM_005585.4:c.-78C>G NP_005576.3:n.-78C>G
NR_027654.1:n.846C>G
XR_931825.1:n.1082C>G
XR_931826.1:n.1082C>G
XR_931827.1:n.1082C>G
XR_931827.2:n.1072C>G
NM_005585.5:c.-78C>G MANE Select NP_005576.3:n.-78C>G
NR_027654.2:n.946C>G