Canonical Allele Identifier: CA2938844
Gene: GNRHR HGNC NCBI

Linked Data

dbSNP Id: rs573131117
gnomAD v2: 4-68606297-C-T
gnomAD v3: 4-67740579-C-T
gnomAD v4: 4-67740579-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67740579C>T , CM000666.2:g.67740579C>T GRCh38
NC_000004.11:g.68606297C>T , CM000666.1:g.68606297C>T GRCh37
NC_000004.10:g.68288892C>T NCBI36
NG_009293.1:g.20508G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.888G>A MANE Select ENSP00000226413.5:p.Met296Ile
ENST00000226413.4:c.888G>A ENSP00000226413.4:p.Met296Ile
ENST00000420975.2:c.760G>A ENSP00000397561.2:n.760G>A
NM_000406.2:c.888G>A NP_000397.1:p.Met296Ile
NM_001012763.1:c.*10G>A NP_001012781.1:n.*10G>A
NM_000406.3:c.888G>A MANE Select NP_000397.1:p.Met296Ile
NM_001012763.2:c.*10G>A NP_001012781.1:n.*10G>A