Canonical Allele Identifier: CA456626122
Gene: SAMD9 HGNC NCBI

Linked Data

dbSNP Id: rs1468936694
gnomAD v2: 7-92733242-A-G
gnomAD v3: 7-93103929-A-G
gnomAD v4: 7-93103929-A-G
MyVariant Identifiers: chr7:g.92733242A>G (hg19) chr7:g.93103929A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93103929A>G , CM000669.2:g.93103929A>G GRCh38
NC_000007.13:g.92733242A>G , CM000669.1:g.92733242A>G GRCh37
NC_000007.12:g.92571178A>G NCBI36
NG_023419.1:g.19095T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379958.3:c.2169T>C MANE Select ENSP00000369292.2:p.Asp723=
ENST00000379958.2:c.2169T>C ENSP00000369292.2:p.Asp723=
ENST00000446617.1:c.2169T>C ENSP00000414529.1:p.Asp723=
ENST00000620985.4:c.2169T>C ENSP00000484636.1:p.Asp723=
NM_001193307.1:c.2169T>C NP_001180236.1:p.Asp723=
NM_017654.3:c.2169T>C NP_060124.2:p.Asp723=
NM_017654.4:c.2169T>C MANE Select NP_060124.2:p.Asp723=
NM_001193307.2:c.2169T>C NP_001180236.1:p.Asp723=
Search 100 bp 5'
Search 100 bp 3'