Canonical Allele Identifier: CA2575767387
Gene: SMAD6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66703162G>T , CM000677.2:g.66703162G>T GRCh38
NC_000015.9:g.66995500G>T , CM000677.1:g.66995500G>T GRCh37
NC_000015.8:g.64782554G>T NCBI36
NG_012244.1:g.5827G>T
NG_012244.2:g.5827G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.-97G>T MANE Select ENSP00000288840.5:n.-97G>T
ENST00000288840.9:c.-97G>T ENSP00000288840.5:n.-97G>T
ENST00000612349.1:n.86G>T
NM_005585.4:c.-97G>T NP_005576.3:n.-97G>T
NR_027654.1:n.827G>T
XR_931825.1:n.1063G>T
XR_931826.1:n.1063G>T
XR_931827.1:n.1063G>T
XR_931827.2:n.1053G>T
NM_005585.5:c.-97G>T MANE Select NP_005576.3:n.-97G>T
NR_027654.2:n.927G>T