Canonical Allele Identifier: CA357047786
Gene: GNRHR HGNC NCBI

Linked Data

ClinVar Variation Id: 2002400
ClinVar RCV Id: RCV002820378
MyVariant Identifiers: chr4:g.68606337T>G (hg19) chr4:g.67740619T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67740619T>G , CM000666.2:g.67740619T>G GRCh38
NC_000004.11:g.68606337T>G , CM000666.1:g.68606337T>G GRCh37
NC_000004.10:g.68288932T>G NCBI36
NG_009293.1:g.20468A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.848A>C MANE Select ENSP00000226413.5:p.Tyr283Ser
ENST00000226413.4:c.848A>C ENSP00000226413.4:p.Tyr283Ser
ENST00000420975.2:c.720A>C ENSP00000397561.2:p.Leu240=
NM_000406.2:c.848A>C NP_000397.1:p.Tyr283Ser
NM_001012763.1:c.720A>C NP_001012781.1:p.Leu240=
NM_000406.3:c.848A>C MANE Select NP_000397.1:p.Tyr283Ser
NM_001012763.2:c.720A>C NP_001012781.1:p.Leu240=
Search 100 bp 5'
Search 100 bp 3'