Canonical Allele Identifier: CA357048223
Gene: GNRHR HGNC NCBI

Linked Data

gnomAD v4: 4-67740671-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67740671G>T , CM000666.2:g.67740671G>T GRCh38
NC_000004.11:g.68606389G>T , CM000666.1:g.68606389G>T GRCh37
NC_000004.10:g.68288984G>T NCBI36
NG_009293.1:g.20416C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.796C>A MANE Select ENSP00000226413.5:p.Leu266Ile
ENST00000226413.4:c.796C>A ENSP00000226413.4:p.Leu266Ile
ENST00000420975.2:c.668C>A ENSP00000397561.2:p.Ser223Tyr
NM_000406.2:c.796C>A NP_000397.1:p.Leu266Ile
NM_001012763.1:c.668C>A NP_001012781.1:p.Ser223Tyr
NM_000406.3:c.796C>A MANE Select NP_000397.1:p.Leu266Ile
NM_001012763.2:c.668C>A NP_001012781.1:p.Ser223Tyr