Canonical Allele Identifier: CA161992160
Gene: SAMD9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2831102
ClinVar RCV Id: RCV003678974
dbSNP Id: rs899310099
gnomAD v3: 7-93104007-A-G
gnomAD v4: 7-93104007-A-G
MyVariant Identifiers: chr7:g.92733320A>G (hg19) chr7:g.93104007A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93104007A>G , CM000669.2:g.93104007A>G GRCh38
NC_000007.13:g.92733320A>G , CM000669.1:g.92733320A>G GRCh37
NC_000007.12:g.92571256A>G NCBI36
NG_023419.1:g.19017T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379958.3:c.2091T>C MANE Select ENSP00000369292.2:p.Ser697=
ENST00000379958.2:c.2091T>C ENSP00000369292.2:p.Ser697=
ENST00000446617.1:c.2091T>C ENSP00000414529.1:p.Ser697=
ENST00000620985.4:c.2091T>C ENSP00000484636.1:p.Ser697=
NM_001193307.1:c.2091T>C NP_001180236.1:p.Ser697=
NM_017654.3:c.2091T>C NP_060124.2:p.Ser697=
NM_017654.4:c.2091T>C MANE Select NP_060124.2:p.Ser697=
NM_001193307.2:c.2091T>C NP_001180236.1:p.Ser697=
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