Canonical Allele Identifier: CA357047336
Gene: GNRHR HGNC NCBI

Linked Data

gnomAD v4: 4-67740533-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67740533C>T , CM000666.2:g.67740533C>T GRCh38
NC_000004.11:g.68606251C>T , CM000666.1:g.68606251C>T GRCh37
NC_000004.10:g.68288846C>T NCBI36
NG_009293.1:g.20554G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.934G>A MANE Select ENSP00000226413.5:p.Ala312Thr
ENST00000226413.4:c.934G>A ENSP00000226413.4:p.Ala312Thr
ENST00000420975.2:c.806G>A ENSP00000397561.2:n.806G>A
NM_000406.2:c.934G>A NP_000397.1:p.Ala312Thr
NM_001012763.1:c.*56G>A NP_001012781.1:n.*56G>A
NM_000406.3:c.934G>A MANE Select NP_000397.1:p.Ala312Thr
NM_001012763.2:c.*56G>A NP_001012781.1:n.*56G>A