Canonical Allele Identifier: CA357048446
Gene: GNRHR HGNC NCBI

Linked Data

dbSNP Id: rs1230143523
gnomAD v3: 4-67740698-T-G
gnomAD v4: 4-67740698-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67740698T>G , CM000666.2:g.67740698T>G GRCh38
NC_000004.11:g.68606416T>G , CM000666.1:g.68606416T>G GRCh37
NC_000004.10:g.68289011T>G NCBI36
NG_009293.1:g.20389A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.769A>C MANE Select ENSP00000226413.5:p.Asn257His
ENST00000226413.4:c.769A>C ENSP00000226413.4:p.Asn257His
ENST00000420975.2:c.641A>C ENSP00000397561.2:p.Gln214Pro
NM_000406.2:c.769A>C NP_000397.1:p.Asn257His
NM_001012763.1:c.641A>C NP_001012781.1:p.Gln214Pro
NM_000406.3:c.769A>C MANE Select NP_000397.1:p.Asn257His
NM_001012763.2:c.641A>C NP_001012781.1:p.Gln214Pro