Canonical Allele Identifier: CA130197
Gene: GNRHR HGNC NCBI

Linked Data

ClinVar Variation Id: 16023
dbSNP Id: rs104893836
gnomAD v2: 4-68619737-T-C
gnomAD v3: 4-67754019-T-C
gnomAD v4: 4-67754019-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67754019T>C , CM000666.2:g.67754019T>C GRCh38
NC_000004.11:g.68619737T>C , CM000666.1:g.68619737T>C GRCh37
NC_000004.10:g.68302332T>C NCBI36
NG_009293.1:g.7068A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000226413.5:c.317A>G MANE Select ENSP00000226413.5:p.Gln106Arg
ENST00000226413.4:c.317A>G ENSP00000226413.4:p.Gln106Arg
ENST00000420975.2:c.317A>G ENSP00000397561.2:p.Gln106Arg
NM_000406.2:c.317A>G NP_000397.1:p.Gln106Arg
NM_001012763.1:c.317A>G NP_001012781.1:p.Gln106Arg
NM_000406.3:c.317A>G MANE Select NP_000397.1:p.Gln106Arg
NM_001012763.2:c.317A>G NP_001012781.1:p.Gln106Arg