Canonical Allele Identifier: CA357048521
Gene: GNRHR HGNC NCBI

Linked Data

dbSNP Id: rs1350994978
gnomAD v2: 4-68606430-T-C
gnomAD v3: 4-67740712-T-C
gnomAD v4: 4-67740712-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67740712T>C , CM000666.2:g.67740712T>C GRCh38
NC_000004.11:g.68606430T>C , CM000666.1:g.68606430T>C GRCh37
NC_000004.10:g.68289025T>C NCBI36
NG_009293.1:g.20375A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.755A>G MANE Select ENSP00000226413.5:p.Asn252Ser
ENST00000226413.4:c.755A>G ENSP00000226413.4:p.Asn252Ser
ENST00000420975.2:c.627A>G ENSP00000397561.2:p.Glu209=
NM_000406.2:c.755A>G NP_000397.1:p.Asn252Ser
NM_001012763.1:c.627A>G NP_001012781.1:p.Glu209=
NM_000406.3:c.755A>G MANE Select NP_000397.1:p.Asn252Ser
NM_001012763.2:c.627A>G NP_001012781.1:p.Glu209=