Canonical Allele Identifier: CA4342510
Gene: SAMD9 HGNC NCBI

Linked Data

ClinVar Variation Id: 712662
ClinVar RCV Id: RCV000884658
dbSNP Id: rs150862618
ExAC: 7:92730738 A / T
gnomAD v2: 7-92730738-A-T
gnomAD v3: 7-93101425-A-T
gnomAD v4: 7-93101425-A-T
MyVariant Identifiers: chr7:g.92730738A>T (hg19) chr7:g.93101425A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93101425A>T , CM000669.2:g.93101425A>T GRCh38
NC_000007.13:g.92730738A>T , CM000669.1:g.92730738A>T GRCh37
NC_000007.12:g.92568674A>T NCBI36
NG_023419.1:g.21599T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379958.3:c.4673T>A MANE Select ENSP00000369292.2:p.Leu1558Ter
ENST00000379958.2:c.4673T>A ENSP00000369292.2:p.Leu1558Ter
ENST00000620985.4:c.4673T>A ENSP00000484636.1:p.Leu1558Ter
NM_001193307.1:c.4673T>A NP_001180236.1:p.Leu1558Ter
NM_017654.3:c.4673T>A NP_060124.2:p.Leu1558Ter
NM_017654.4:c.4673T>A MANE Select NP_060124.2:p.Leu1558Ter
NM_001193307.2:c.4673T>A NP_001180236.1:p.Leu1558Ter
Search 100 bp 5'
Search 100 bp 3'