Canonical Allele Identifier: CA393201659
Gene: SMAD6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1028400
ClinVar RCV Id: RCV001329433 RCV002418986
dbSNP Id: rs1894552779
gnomAD v3: 15-66781050-T-C
gnomAD v4: 15-66781050-T-C
MyVariant Identifiers: chr15:g.67073388T>C (hg19) chr15:g.66781050T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66781050T>C , CM000677.2:g.66781050T>C GRCh38
NC_000015.9:g.67073388T>C , CM000677.1:g.67073388T>C GRCh37
NC_000015.8:g.64860442T>C NCBI36
NG_012244.1:g.83715T>C
NG_012244.2:g.83715T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.1006T>C MANE Select ENSP00000288840.5:p.Tyr336His
ENST00000288840.9:c.1006T>C ENSP00000288840.5:p.Tyr336His
ENST00000557916.5:c.1138T>C ENSP00000452955.1:n.1138T>C
ENST00000559931.5:c.310T>C ENSP00000453446.1:n.310T>C
NM_005585.4:c.1006T>C NP_005576.3:p.Tyr336His
NR_027654.1:n.2061T>C
XM_011521561.1:c.223T>C XP_011519863.1:p.Tyr75His
XR_931825.1:n.2405T>C
XM_011521561.2:c.223T>C XP_011519863.1:p.Tyr75His
NM_005585.5:c.1006T>C MANE Select NP_005576.3:p.Tyr336His
NR_027654.2:n.2161T>C
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