Canonical Allele Identifier: CA357047732
Gene: GNRHR HGNC NCBI

Linked Data

gnomAD v4: 4-67740612-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67740612G>A , CM000666.2:g.67740612G>A GRCh38
NC_000004.11:g.68606330G>A , CM000666.1:g.68606330G>A GRCh37
NC_000004.10:g.68288925G>A NCBI36
NG_009293.1:g.20475C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.855C>T MANE Select ENSP00000226413.5:p.Val285=
ENST00000226413.4:c.855C>T ENSP00000226413.4:p.Val285=
ENST00000420975.2:c.727C>T ENSP00000397561.2:p.Pro243Ser
NM_000406.2:c.855C>T NP_000397.1:p.Val285=
NM_001012763.1:c.727C>T NP_001012781.1:p.Pro243Ser
NM_000406.3:c.855C>T MANE Select NP_000397.1:p.Val285=
NM_001012763.2:c.727C>T NP_001012781.1:p.Pro243Ser