Canonical Allele Identifier: CA269458
Gene: GNRHR HGNC NCBI

Linked Data

ClinVar Variation Id: 126540
ClinVar RCV Id: RCV000114424
dbSNP Id: rs515726220
MyVariant Identifiers: chr4:g.68606343G>A (hg19) chr4:g.67740625G>A (hg38)
PubMed: PMID:22745237
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67740625G>A , CM000666.2:g.67740625G>A GRCh38
NC_000004.11:g.68606343G>A , CM000666.1:g.68606343G>A GRCh37
NC_000004.10:g.68288938G>A NCBI36
NG_009293.1:g.20462C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.842C>T MANE Select ENSP00000226413.5:p.Thr281Ile
ENST00000226413.4:c.842C>T ENSP00000226413.4:p.Thr281Ile
ENST00000420975.2:c.714C>T ENSP00000397561.2:p.Asp238=
NM_000406.2:c.842C>T NP_000397.1:p.Thr281Ile
NM_001012763.1:c.714C>T NP_001012781.1:p.Asp238=
NM_000406.3:c.842C>T MANE Select NP_000397.1:p.Thr281Ile
NM_001012763.2:c.714C>T NP_001012781.1:p.Asp238=
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