Canonical Allele Identifier: CA16618572
Gene: SAMD9 HGNC NCBI

Linked Data

ClinVar Variation Id: 421898
dbSNP Id: rs1064795431

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93104044C>T , CM000669.2:g.93104044C>T GRCh38
NC_000007.13:g.92733357C>T , CM000669.1:g.92733357C>T GRCh37
NC_000007.12:g.92571293C>T NCBI36
NG_023419.1:g.18980G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000379958.3:c.2054G>A MANE Select ENSP00000369292.2:p.Arg685Gln
ENST00000379958.2:c.2054G>A ENSP00000369292.2:p.Arg685Gln
ENST00000446617.1:c.2054G>A ENSP00000414529.1:p.Arg685Gln
ENST00000620985.4:c.2054G>A ENSP00000484636.1:p.Arg685Gln
NM_001193307.1:c.2054G>A NP_001180236.1:p.Arg685Gln
NM_017654.3:c.2054G>A NP_060124.2:p.Arg685Gln
NM_017654.4:c.2054G>A MANE Select NP_060124.2:p.Arg685Gln
NM_001193307.2:c.2054G>A NP_001180236.1:p.Arg685Gln