Canonical Allele Identifier: CA2938994
Gene: GNRHR HGNC NCBI

Linked Data

ClinVar Variation Id: 3057312
ClinVar RCV Id: RCV003974190
dbSNP Id: rs144227203
gnomAD v2: 4-68619934-C-T
gnomAD v3: 4-67754216-C-T
gnomAD v4: 4-67754216-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67754216C>T , CM000666.2:g.67754216C>T GRCh38
NC_000004.11:g.68619934C>T , CM000666.1:g.68619934C>T GRCh37
NC_000004.10:g.68302529C>T NCBI36
NG_009293.1:g.6871G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000226413.5:c.120G>A MANE Select ENSP00000226413.5:p.Thr40=
ENST00000226413.4:c.120G>A ENSP00000226413.4:p.Thr40=
ENST00000420975.2:c.120G>A ENSP00000397561.2:p.Thr40=
NM_000406.2:c.120G>A NP_000397.1:p.Thr40=
NM_001012763.1:c.120G>A NP_001012781.1:p.Thr40=
NM_000406.3:c.120G>A MANE Select NP_000397.1:p.Thr40=
NM_001012763.2:c.120G>A NP_001012781.1:p.Thr40=