Canonical Allele Identifier: CA2504551500
Gene: SMAD6 HGNC NCBI

Linked Data

gnomAD v4: 15-66703187-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66703187C>A , CM000677.2:g.66703187C>A GRCh38
NC_000015.9:g.66995525C>A , CM000677.1:g.66995525C>A GRCh37
NC_000015.8:g.64782579C>A NCBI36
NG_012244.1:g.5852C>A
NG_012244.2:g.5852C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.-72C>A MANE Select ENSP00000288840.5:n.-72C>A
ENST00000288840.9:c.-72C>A ENSP00000288840.5:n.-72C>A
ENST00000612349.1:n.111C>A
NM_005585.4:c.-72C>A NP_005576.3:n.-72C>A
NR_027654.1:n.852C>A
XR_931825.1:n.1088C>A
XR_931826.1:n.1088C>A
XR_931827.1:n.1088C>A
XR_931827.2:n.1078C>A
NM_005585.5:c.-72C>A MANE Select NP_005576.3:n.-72C>A
NR_027654.2:n.952C>A
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