Canonical Allele Identifier: CA2938995
Gene: GNRHR HGNC NCBI

Linked Data

dbSNP Id: rs779496235
gnomAD v2: 4-68619935-G-A
gnomAD v3: 4-67754217-G-A
gnomAD v4: 4-67754217-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67754217G>A , CM000666.2:g.67754217G>A GRCh38
NC_000004.11:g.68619935G>A , CM000666.1:g.68619935G>A GRCh37
NC_000004.10:g.68302530G>A NCBI36
NG_009293.1:g.6870C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.119C>T MANE Select ENSP00000226413.5:p.Thr40Met
ENST00000226413.4:c.119C>T ENSP00000226413.4:p.Thr40Met
ENST00000420975.2:c.119C>T ENSP00000397561.2:p.Thr40Met
NM_000406.2:c.119C>T NP_000397.1:p.Thr40Met
NM_001012763.1:c.119C>T NP_001012781.1:p.Thr40Met
NM_000406.3:c.119C>T MANE Select NP_000397.1:p.Thr40Met
NM_001012763.2:c.119C>T NP_001012781.1:p.Thr40Met