Canonical Allele Identifier: CA130210
Gene: GNRHR HGNC NCBI

Linked Data

ClinVar Variation Id: 16034
ClinVar RCV Id: RCV000030918
dbSNP Id: rs74452732
ExAC: 4:68619543 C / T
gnomAD v2: 4-68619543-C-T
gnomAD v4: 4-67753825-C-T
MyVariant Identifiers: chr4:g.68619543C>T (hg19) chr4:g.67753825C>T (hg38)
PubMed: PMID:12679486
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67753825C>T , CM000666.2:g.67753825C>T GRCh38
NC_000004.11:g.68619543C>T , CM000666.1:g.68619543C>T GRCh37
NC_000004.10:g.68302138C>T NCBI36
NG_009293.1:g.7262G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000226413.5:c.511G>A MANE Select ENSP00000226413.5:p.Ala171Thr
ENST00000226413.4:c.511G>A ENSP00000226413.4:p.Ala171Thr
ENST00000420975.2:c.511G>A ENSP00000397561.2:p.Ala171Thr
NM_000406.2:c.511G>A NP_000397.1:p.Ala171Thr
NM_001012763.1:c.511G>A NP_001012781.1:p.Ala171Thr
NM_000406.3:c.511G>A MANE Select NP_000397.1:p.Ala171Thr
NM_001012763.2:c.511G>A NP_001012781.1:p.Ala171Thr
Search 100 bp 5'
Search 100 bp 3'