Canonical Allele Identifier: CA357048309
Gene: GNRHR HGNC NCBI

Linked Data

dbSNP Id: rs1388348352
gnomAD v2: 4-68606398-G-A
gnomAD v3: 4-67740680-G-A
gnomAD v4: 4-67740680-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67740680G>A , CM000666.2:g.67740680G>A GRCh38
NC_000004.11:g.68606398G>A , CM000666.1:g.68606398G>A GRCh37
NC_000004.10:g.68288993G>A NCBI36
NG_009293.1:g.20407C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.787C>T MANE Select ENSP00000226413.5:p.Leu263=
ENST00000226413.4:c.787C>T ENSP00000226413.4:p.Leu263=
ENST00000420975.2:c.659C>T ENSP00000397561.2:p.Ala220Val
NM_000406.2:c.787C>T NP_000397.1:p.Leu263=
NM_001012763.1:c.659C>T NP_001012781.1:p.Ala220Val
NM_000406.3:c.787C>T MANE Select NP_000397.1:p.Leu263=
NM_001012763.2:c.659C>T NP_001012781.1:p.Ala220Val