Canonical Allele Identifier: CA2938850
Gene: GNRHR HGNC NCBI

Linked Data

dbSNP Id: rs774576500
gnomAD v2: 4-68606374-C-G
gnomAD v4: 4-67740656-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67740656C>G , CM000666.2:g.67740656C>G GRCh38
NC_000004.11:g.68606374C>G , CM000666.1:g.68606374C>G GRCh37
NC_000004.10:g.68288969C>G NCBI36
NG_009293.1:g.20431G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.811G>C MANE Select ENSP00000226413.5:p.Ala271Pro
ENST00000226413.4:c.811G>C ENSP00000226413.4:p.Ala271Pro
ENST00000420975.2:c.683G>C ENSP00000397561.2:p.Cys228Ser
NM_000406.2:c.811G>C NP_000397.1:p.Ala271Pro
NM_001012763.1:c.683G>C NP_001012781.1:p.Cys228Ser
NM_000406.3:c.811G>C MANE Select NP_000397.1:p.Ala271Pro
NM_001012763.2:c.683G>C NP_001012781.1:p.Cys228Ser