Canonical Allele Identifier: CA516683746
Gene: GSPT2 HGNC NCBI

Linked Data

gnomAD v4: X-51744562-C-T
MyVariant Identifiers: chrX:g.51487658C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.51744562C>T , CM000685.2:g.51744562C>T GRCh38
NC_000023.10:g.51487658C>T , CM000685.1:g.51487658C>T GRCh37
NC_000023.9:g.51504398C>T NCBI36
NG_016857.1:g.6178C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000340438.6:c.936C>T MANE Select ENSP00000341247.4:p.Ile312=
ENST00000340438.5:c.936C>T ENSP00000341247.4:p.Ile312=
NM_018094.4:c.936C>T NP_060564.2:p.Ile312=
NM_018094.5:c.936C>T MANE Select NP_060564.2:p.Ile312=
Search 100 bp 5'
Search 100 bp 3'