Canonical Allele Identifier: CA130201
Gene: GNRHR HGNC NCBI

Linked Data

ClinVar Variation Id: 16025
ClinVar RCV Id: RCV000030909
dbSNP Id: rs28933074
ExAC: 4:68606334 T / C
gnomAD v2: 4-68606334-T-C
gnomAD v3: 4-67740616-T-C
gnomAD v4: 4-67740616-T-C
MyVariant Identifiers: chr4:g.68606334T>C (hg19) chr4:g.67740616T>C (hg38)
PubMed: PMID:9425890
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67740616T>C , CM000666.2:g.67740616T>C GRCh38
NC_000004.11:g.68606334T>C , CM000666.1:g.68606334T>C GRCh37
NC_000004.10:g.68288929T>C NCBI36
NG_009293.1:g.20471A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.851A>G MANE Select ENSP00000226413.5:p.Tyr284Cys
ENST00000226413.4:c.851A>G ENSP00000226413.4:p.Tyr284Cys
ENST00000420975.2:c.723A>G ENSP00000397561.2:p.Leu241=
NM_000406.2:c.851A>G NP_000397.1:p.Tyr284Cys
NM_001012763.1:c.723A>G NP_001012781.1:p.Leu241=
NM_000406.3:c.851A>G MANE Select NP_000397.1:p.Tyr284Cys
NM_001012763.2:c.723A>G NP_001012781.1:p.Leu241=
Search 100 bp 5'
Search 100 bp 3'