Canonical Allele Identifier: CA357048587
Gene: GNRHR HGNC NCBI

Linked Data

gnomAD v4: 4-67740724-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67740724T>A , CM000666.2:g.67740724T>A GRCh38
NC_000004.11:g.68606442T>A , CM000666.1:g.68606442T>A GRCh37
NC_000004.10:g.68289037T>A NCBI36
NG_009293.1:g.20363A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.743A>T MANE Select ENSP00000226413.5:p.Glu248Val
ENST00000226413.4:c.743A>T ENSP00000226413.4:p.Glu248Val
ENST00000420975.2:c.615A>T ENSP00000397561.2:p.Arg205=
NM_000406.2:c.743A>T NP_000397.1:p.Glu248Val
NM_001012763.1:c.615A>T NP_001012781.1:p.Arg205=
NM_000406.3:c.743A>T MANE Select NP_000397.1:p.Glu248Val
NM_001012763.2:c.615A>T NP_001012781.1:p.Arg205=