Canonical Allele Identifier: CA2938941
Gene: GNRHR HGNC NCBI

Linked Data

dbSNP Id: rs752688090
gnomAD v2: 4-68619619-C-T
gnomAD v3: 4-67753901-C-T
gnomAD v4: 4-67753901-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67753901C>T , CM000666.2:g.67753901C>T GRCh38
NC_000004.11:g.68619619C>T , CM000666.1:g.68619619C>T GRCh37
NC_000004.10:g.68302214C>T NCBI36
NG_009293.1:g.7186G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.435G>A MANE Select ENSP00000226413.5:p.Arg145=
ENST00000226413.4:c.435G>A ENSP00000226413.4:p.Arg145=
ENST00000420975.2:c.435G>A ENSP00000397561.2:p.Arg145=
NM_000406.2:c.435G>A NP_000397.1:p.Arg145=
NM_001012763.1:c.435G>A NP_001012781.1:p.Arg145=
NM_000406.3:c.435G>A MANE Select NP_000397.1:p.Arg145=
NM_001012763.2:c.435G>A NP_001012781.1:p.Arg145=