Canonical Allele Identifier: CA393202564
Gene: SMAD6 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.66781495G>A
GRCh37 chr15:g.67073833G>A
Revel Score:
ENST00000288840 (MANE Select) 0.968
ENST00000338426 0.968
gnomAD v3:
15:66781495 G / A
gnomAD v4:
chr15-66781495-G-A
Joint Max Group AF 0.00000185 (NFE)
Exomes Max Group AF 0.00000197 (NFE)
ClinVar RCV:
RCV000520660
ClinVar Variation:
449626
dbSNP:
387907283
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66781495G>A , CM000677.2:g.66781495G>A GRCh38
NC_000015.9:g.67073833G>A , CM000677.1:g.67073833G>A GRCh37
NC_000015.8:g.64860887G>A NCBI36
NG_012244.1:g.84160G>A
NG_012244.2:g.84160G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.1451G>A MANE Select ENSP00000288840.5:p.Cys484Tyr
ENST00000288840.9:c.1451G>A ENSP00000288840.5:p.Cys484Tyr
NM_005585.4:c.1451G>A NP_005576.3:p.Cys484Tyr
NR_027654.1:n.2506G>A
XM_011521561.1:c.668G>A XP_011519863.1:p.Cys223Tyr
XM_011521561.2:c.668G>A XP_011519863.1:p.Cys223Tyr
NM_005585.5:c.1451G>A MANE Select NP_005576.3:p.Cys484Tyr
NR_027654.2:n.2606G>A
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