Canonical Allele Identifier: CA368176626
Gene: SAMD9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1708307
ClinVar RCV Id: RCV002287680
MyVariant Identifiers: chr7:g.92730747G>C (hg19) chr7:g.93101434G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93101434G>C , CM000669.2:g.93101434G>C GRCh38
NC_000007.13:g.92730747G>C , CM000669.1:g.92730747G>C GRCh37
NC_000007.12:g.92568683G>C NCBI36
NG_023419.1:g.21590C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000379958.3:c.4664C>G MANE Select ENSP00000369292.2:p.Pro1555Arg
ENST00000379958.2:c.4664C>G ENSP00000369292.2:p.Pro1555Arg
ENST00000620985.4:c.4664C>G ENSP00000484636.1:p.Pro1555Arg
NM_001193307.1:c.4664C>G NP_001180236.1:p.Pro1555Arg
NM_017654.3:c.4664C>G NP_060124.2:p.Pro1555Arg
NM_017654.4:c.4664C>G MANE Select NP_060124.2:p.Pro1555Arg
NM_001193307.2:c.4664C>G NP_001180236.1:p.Pro1555Arg
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