Canonical Allele Identifier: CA2629100860
Gene: SMAD6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66703223C>A , CM000677.2:g.66703223C>A GRCh38
NC_000015.9:g.66995561C>A , CM000677.1:g.66995561C>A GRCh37
NC_000015.8:g.64782615C>A NCBI36
NG_012244.1:g.5888C>A
NG_012244.2:g.5888C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.-36C>A MANE Select ENSP00000288840.5:n.-36C>A
ENST00000288840.9:c.-36C>A ENSP00000288840.5:n.-36C>A
ENST00000612349.1:n.147C>A
NM_005585.4:c.-36C>A NP_005576.3:n.-36C>A
NR_027654.1:n.888C>A
XR_931825.1:n.1124C>A
XR_931826.1:n.1124C>A
XR_931827.1:n.1124C>A
XR_931827.2:n.1114C>A
NM_005585.5:c.-36C>A MANE Select NP_005576.3:n.-36C>A
NR_027654.2:n.988C>A