Canonical Allele Identifier: CA368177730
Gene: SAMD9 HGNC NCBI

Linked Data

dbSNP Id: rs1384464613
gnomAD v3: 7-93101536-T-C
gnomAD v4: 7-93101536-T-C
MyVariant Identifiers: chr7:g.92730849T>C (hg19) chr7:g.93101536T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93101536T>C , CM000669.2:g.93101536T>C GRCh38
NC_000007.13:g.92730849T>C , CM000669.1:g.92730849T>C GRCh37
NC_000007.12:g.92568785T>C NCBI36
NG_023419.1:g.21488A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379958.3:c.4562A>G MANE Select ENSP00000369292.2:p.Glu1521Gly
ENST00000379958.2:c.4562A>G ENSP00000369292.2:p.Glu1521Gly
ENST00000620985.4:c.4562A>G ENSP00000484636.1:p.Glu1521Gly
NM_001193307.1:c.4562A>G NP_001180236.1:p.Glu1521Gly
NM_017654.3:c.4562A>G NP_060124.2:p.Glu1521Gly
NM_017654.4:c.4562A>G MANE Select NP_060124.2:p.Glu1521Gly
NM_001193307.2:c.4562A>G NP_001180236.1:p.Glu1521Gly
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