Canonical Allele Identifier: CA368193532
Gene: SAMD9 HGNC NCBI

Linked Data

gnomAD v4: 7-93104051-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93104051A>T , CM000669.2:g.93104051A>T GRCh38
NC_000007.13:g.92733364A>T , CM000669.1:g.92733364A>T GRCh37
NC_000007.12:g.92571300A>T NCBI36
NG_023419.1:g.18973T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379958.3:c.2047T>A MANE Select ENSP00000369292.2:p.Phe683Ile
ENST00000379958.2:c.2047T>A ENSP00000369292.2:p.Phe683Ile
ENST00000446617.1:c.2047T>A ENSP00000414529.1:p.Phe683Ile
ENST00000620985.4:c.2047T>A ENSP00000484636.1:p.Phe683Ile
NM_001193307.1:c.2047T>A NP_001180236.1:p.Phe683Ile
NM_017654.3:c.2047T>A NP_060124.2:p.Phe683Ile
NM_017654.4:c.2047T>A MANE Select NP_060124.2:p.Phe683Ile
NM_001193307.2:c.2047T>A NP_001180236.1:p.Phe683Ile