Canonical Allele Identifier: CA2938859
Gene: GNRHR HGNC NCBI

Linked Data

dbSNP Id: rs777676177
gnomAD v2: 4-68606438-T-C
gnomAD v4: 4-67740720-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67740720T>C , CM000666.2:g.67740720T>C GRCh38
NC_000004.11:g.68606438T>C , CM000666.1:g.68606438T>C GRCh37
NC_000004.10:g.68289033T>C NCBI36
NG_009293.1:g.20367A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.747A>G MANE Select ENSP00000226413.5:p.Leu249=
ENST00000226413.4:c.747A>G ENSP00000226413.4:p.Leu249=
ENST00000420975.2:c.619A>G ENSP00000397561.2:p.Thr207Ala
NM_000406.2:c.747A>G NP_000397.1:p.Leu249=
NM_001012763.1:c.619A>G NP_001012781.1:p.Thr207Ala
NM_000406.3:c.747A>G MANE Select NP_000397.1:p.Leu249=
NM_001012763.2:c.619A>G NP_001012781.1:p.Thr207Ala