Canonical Allele Identifier: CA368192016
Gene: SAMD9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1050603
ClinVar RCV Id: RCV001358236
dbSNP Id: rs1562775062
gnomAD v4: 7-93103865-T-C
MyVariant Identifiers: chr7:g.92733178T>C (hg19) chr7:g.93103865T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93103865T>C , CM000669.2:g.93103865T>C GRCh38
NC_000007.13:g.92733178T>C , CM000669.1:g.92733178T>C GRCh37
NC_000007.12:g.92571114T>C NCBI36
NG_023419.1:g.19159A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379958.3:c.2233A>G MANE Select ENSP00000369292.2:p.Thr745Ala
ENST00000379958.2:c.2233A>G ENSP00000369292.2:p.Thr745Ala
ENST00000446617.1:c.2233A>G ENSP00000414529.1:p.Thr745Ala
ENST00000620985.4:c.2233A>G ENSP00000484636.1:p.Thr745Ala
NM_001193307.1:c.2233A>G NP_001180236.1:p.Thr745Ala
NM_017654.3:c.2233A>G NP_060124.2:p.Thr745Ala
NM_017654.4:c.2233A>G MANE Select NP_060124.2:p.Thr745Ala
NM_001193307.2:c.2233A>G NP_001180236.1:p.Thr745Ala
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