Canonical Allele Identifier: CA2629100781
Gene: SMAD6 HGNC NCBI

Linked Data

gnomAD v4: 15-66703161-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66703161T>A , CM000677.2:g.66703161T>A GRCh38
NC_000015.9:g.66995499T>A , CM000677.1:g.66995499T>A GRCh37
NC_000015.8:g.64782553T>A NCBI36
NG_012244.1:g.5826T>A
NG_012244.2:g.5826T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.-98T>A MANE Select ENSP00000288840.5:n.-98T>A
ENST00000288840.9:c.-98T>A ENSP00000288840.5:n.-98T>A
ENST00000612349.1:n.85T>A
NM_005585.4:c.-98T>A NP_005576.3:n.-98T>A
NR_027654.1:n.826T>A
XR_931825.1:n.1062T>A
XR_931826.1:n.1062T>A
XR_931827.1:n.1062T>A
XR_931827.2:n.1052T>A
NM_005585.5:c.-98T>A MANE Select NP_005576.3:n.-98T>A
NR_027654.2:n.926T>A
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