Canonical Allele Identifier: CA357048542
Gene: GNRHR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67740717T>G , CM000666.2:g.67740717T>G GRCh38
NC_000004.11:g.68606435T>G , CM000666.1:g.68606435T>G GRCh37
NC_000004.10:g.68289030T>G NCBI36
NG_009293.1:g.20370A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.750A>C MANE Select ENSP00000226413.5:p.Gln250His
ENST00000226413.4:c.750A>C ENSP00000226413.4:p.Gln250His
ENST00000420975.2:c.622A>C ENSP00000397561.2:p.Thr208Pro
NM_000406.2:c.750A>C NP_000397.1:p.Gln250His
NM_001012763.1:c.622A>C NP_001012781.1:p.Thr208Pro
NM_000406.3:c.750A>C MANE Select NP_000397.1:p.Gln250His
NM_001012763.2:c.622A>C NP_001012781.1:p.Thr208Pro