Canonical Allele Identifier: CA368192667
Gene: SAMD9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2303421
ClinVar RCV Id: RCV002878913
dbSNP Id: rs1791582914
gnomAD v3: 7-93103945-A-G
gnomAD v4: 7-93103945-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93103945A>G , CM000669.2:g.93103945A>G GRCh38
NC_000007.13:g.92733258A>G , CM000669.1:g.92733258A>G GRCh37
NC_000007.12:g.92571194A>G NCBI36
NG_023419.1:g.19079T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379958.3:c.2153T>C MANE Select ENSP00000369292.2:p.Ile718Thr
ENST00000379958.2:c.2153T>C ENSP00000369292.2:p.Ile718Thr
ENST00000446617.1:c.2153T>C ENSP00000414529.1:p.Ile718Thr
ENST00000620985.4:c.2153T>C ENSP00000484636.1:p.Ile718Thr
NM_001193307.1:c.2153T>C NP_001180236.1:p.Ile718Thr
NM_017654.3:c.2153T>C NP_060124.2:p.Ile718Thr
NM_017654.4:c.2153T>C MANE Select NP_060124.2:p.Ile718Thr
NM_001193307.2:c.2153T>C NP_001180236.1:p.Ile718Thr