Canonical Allele Identifier: CA439924331
Gene: GNRHR HGNC NCBI

Linked Data

dbSNP Id: rs1731639698
gnomAD v4: 4-67740578-A-G
MyVariant Identifiers: chr4:g.68606296A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67740578A>G , CM000666.2:g.67740578A>G GRCh38
NC_000004.11:g.68606296A>G , CM000666.1:g.68606296A>G GRCh37
NC_000004.10:g.68288891A>G NCBI36
NG_009293.1:g.20509T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.889T>C MANE Select ENSP00000226413.5:p.Leu297=
ENST00000226413.4:c.889T>C ENSP00000226413.4:p.Leu297=
ENST00000420975.2:c.761T>C ENSP00000397561.2:n.761T>C
NM_000406.2:c.889T>C NP_000397.1:p.Leu297=
NM_001012763.1:c.*11T>C NP_001012781.1:n.*11T>C
NM_000406.3:c.889T>C MANE Select NP_000397.1:p.Leu297=
NM_001012763.2:c.*11T>C NP_001012781.1:n.*11T>C