Canonical Allele Identifier: CA392948422
Gene: SMAD6 HGNC NCBI

Linked Data

dbSNP Id: rs780992085
gnomAD v2: 15-66995659-C-A
gnomAD v3: 15-66703321-C-A
gnomAD v4: 15-66703321-C-A
MyVariant Identifiers: chr15:g.66995659C>A (hg19) chr15:g.66703321C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66703321C>A , CM000677.2:g.66703321C>A GRCh38
NC_000015.9:g.66995659C>A , CM000677.1:g.66995659C>A GRCh37
NC_000015.8:g.64782713C>A NCBI36
NG_012244.1:g.5986C>A
NG_012244.2:g.5986C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.63C>A MANE Select ENSP00000288840.5:p.Asp21Glu
ENST00000288840.9:c.63C>A ENSP00000288840.5:p.Asp21Glu
ENST00000557916.5:c.63C>A ENSP00000452955.1:p.Asp21Glu
ENST00000612349.1:n.245C>A
NM_005585.4:c.63C>A NP_005576.3:p.Asp21Glu
NR_027654.1:n.986C>A
XR_931825.1:n.1222C>A
XR_931826.1:n.1222C>A
XR_931827.1:n.1222C>A
XR_931827.2:n.1212C>A
NM_005585.5:c.63C>A MANE Select NP_005576.3:p.Asp21Glu
NR_027654.2:n.1086C>A
Search 100 bp 5'
Search 100 bp 3'