Canonical Allele Identifier: CA393201546
Gene: SMAD6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1710566
ClinVar RCV Id: RCV002291853
dbSNP Id: rs1343234193
gnomAD v2: 15-67073337-G-A
gnomAD v4: 15-66780999-G-A
MyVariant Identifiers: chr15:g.67073337G>A (hg19) chr15:g.66780999G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66780999G>A , CM000677.2:g.66780999G>A GRCh38
NC_000015.9:g.67073337G>A , CM000677.1:g.67073337G>A GRCh37
NC_000015.8:g.64860391G>A NCBI36
NG_012244.1:g.83664G>A
NG_012244.2:g.83664G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.955G>A MANE Select ENSP00000288840.5:p.Ala319Thr
ENST00000288840.9:c.955G>A ENSP00000288840.5:p.Ala319Thr
ENST00000557916.5:c.1087G>A ENSP00000452955.1:n.1087G>A
ENST00000559931.5:c.259G>A ENSP00000453446.1:n.259G>A
NM_005585.4:c.955G>A NP_005576.3:p.Ala319Thr
NR_027654.1:n.2010G>A
XM_011521561.1:c.172G>A XP_011519863.1:p.Ala58Thr
XR_931825.1:n.2354G>A
XM_011521561.2:c.172G>A XP_011519863.1:p.Ala58Thr
NM_005585.5:c.955G>A MANE Select NP_005576.3:p.Ala319Thr
NR_027654.2:n.2110G>A
Search 100 bp 5'
Search 100 bp 3'