Canonical Allele Identifier: CA357048213
Gene: GNRHR HGNC NCBI

Linked Data

gnomAD v4: 4-67740670-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67740670A>G , CM000666.2:g.67740670A>G GRCh38
NC_000004.11:g.68606388A>G , CM000666.1:g.68606388A>G GRCh37
NC_000004.10:g.68288983A>G NCBI36
NG_009293.1:g.20417T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.797T>C MANE Select ENSP00000226413.5:p.Leu266Pro
ENST00000226413.4:c.797T>C ENSP00000226413.4:p.Leu266Pro
ENST00000420975.2:c.669T>C ENSP00000397561.2:p.Ser223=
NM_000406.2:c.797T>C NP_000397.1:p.Leu266Pro
NM_001012763.1:c.669T>C NP_001012781.1:p.Ser223=
NM_000406.3:c.797T>C MANE Select NP_000397.1:p.Leu266Pro
NM_001012763.2:c.669T>C NP_001012781.1:p.Ser223=