Canonical Allele Identifier: CA357048493
Gene: GNRHR HGNC NCBI

Linked Data

gnomAD v4: 4-67740706-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67740706G>T , CM000666.2:g.67740706G>T GRCh38
NC_000004.11:g.68606424G>T , CM000666.1:g.68606424G>T GRCh37
NC_000004.10:g.68289019G>T NCBI36
NG_009293.1:g.20381C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.761C>A MANE Select ENSP00000226413.5:p.Ser254Tyr
ENST00000226413.4:c.761C>A ENSP00000226413.4:p.Ser254Tyr
ENST00000420975.2:c.633C>A ENSP00000397561.2:p.Val211=
NM_000406.2:c.761C>A NP_000397.1:p.Ser254Tyr
NM_001012763.1:c.633C>A NP_001012781.1:p.Val211=
NM_000406.3:c.761C>A MANE Select NP_000397.1:p.Ser254Tyr
NM_001012763.2:c.633C>A NP_001012781.1:p.Val211=