Canonical Allele Identifier: CA7626421
Gene: SMAD6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1130558
ClinVar RCV Id: RCV001464125
dbSNP Id: rs780992085
ExAC: 15:66995659 C / T
gnomAD v2: 15-66995659-C-T
gnomAD v4: 15-66703321-C-T
MyVariant Identifiers: chr15:g.66995659C>T (hg19) chr15:g.66703321C>T (hg38)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.63C>T MANE Select ENSP00000288840.5:p.Asp21=
ENST00000288840.9:c.63C>T ENSP00000288840.5:p.Asp21=
ENST00000557916.5:c.63C>T ENSP00000452955.1:p.Asp21=
ENST00000612349.1:n.245C>T
NM_005585.4:c.63C>T NP_005576.3:p.Asp21=
NR_027654.1:n.986C>T
XR_931825.1:n.1222C>T
XR_931826.1:n.1222C>T
XR_931827.1:n.1222C>T
XR_931827.2:n.1212C>T
NM_005585.5:c.63C>T MANE Select NP_005576.3:p.Asp21=
NR_027654.2:n.1086C>T
Search 100 bp 5'
Search 100 bp 3'