Canonical Allele Identifier: CA368193522
Gene: SAMD9 HGNC NCBI

Linked Data

dbSNP Id: rs1242936205
gnomAD v3: 7-93104050-A-C
gnomAD v4: 7-93104050-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93104050A>C , CM000669.2:g.93104050A>C GRCh38
NC_000007.13:g.92733363A>C , CM000669.1:g.92733363A>C GRCh37
NC_000007.12:g.92571299A>C NCBI36
NG_023419.1:g.18974T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379958.3:c.2048T>G MANE Select ENSP00000369292.2:p.Phe683Cys
ENST00000379958.2:c.2048T>G ENSP00000369292.2:p.Phe683Cys
ENST00000446617.1:c.2048T>G ENSP00000414529.1:p.Phe683Cys
ENST00000620985.4:c.2048T>G ENSP00000484636.1:p.Phe683Cys
NM_001193307.1:c.2048T>G NP_001180236.1:p.Phe683Cys
NM_017654.3:c.2048T>G NP_060124.2:p.Phe683Cys
NM_017654.4:c.2048T>G MANE Select NP_060124.2:p.Phe683Cys
NM_001193307.2:c.2048T>G NP_001180236.1:p.Phe683Cys