Canonical Allele Identifier: CA393201753
Gene: SMAD6 HGNC NCBI

Linked Data

ClinVar Variation Id: 690426
ClinVar RCV Id: RCV000851362 RCV002508151 RCV003647808
dbSNP Id: rs200493039
gnomAD v2: 15-67073432-C-G
gnomAD v4: 15-66781094-C-G
MyVariant Identifiers: chr15:g.67073432C>G (hg19) chr15:g.66781094C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66781094C>G , CM000677.2:g.66781094C>G GRCh38
NC_000015.9:g.67073432C>G , CM000677.1:g.67073432C>G GRCh37
NC_000015.8:g.64860486C>G NCBI36
NG_012244.1:g.83759C>G
NG_012244.2:g.83759C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.1050C>G MANE Select ENSP00000288840.5:p.Tyr350Ter
ENST00000288840.9:c.1050C>G ENSP00000288840.5:p.Tyr350Ter
ENST00000557916.5:c.1182C>G ENSP00000452955.1:n.1182C>G
ENST00000559931.5:c.354C>G ENSP00000453446.1:n.354C>G
NM_005585.4:c.1050C>G NP_005576.3:p.Tyr350Ter
NR_027654.1:n.2105C>G
XM_011521561.1:c.267C>G XP_011519863.1:p.Tyr89Ter
XR_931825.1:n.2449C>G
XM_011521561.2:c.267C>G XP_011519863.1:p.Tyr89Ter
NM_005585.5:c.1050C>G MANE Select NP_005576.3:p.Tyr350Ter
NR_027654.2:n.2205C>G
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