Canonical Allele Identifier: CA357047519
Gene: GNRHR HGNC NCBI

Linked Data

gnomAD v4: 4-67740571-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67740571C>G , CM000666.2:g.67740571C>G GRCh38
NC_000004.11:g.68606289C>G , CM000666.1:g.68606289C>G GRCh37
NC_000004.10:g.68288884C>G NCBI36
NG_009293.1:g.20516G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.896G>C MANE Select ENSP00000226413.5:p.Arg299Thr
ENST00000226413.4:c.896G>C ENSP00000226413.4:p.Arg299Thr
ENST00000420975.2:c.768G>C ENSP00000397561.2:n.768G>C
NM_000406.2:c.896G>C NP_000397.1:p.Arg299Thr
NM_001012763.1:c.*18G>C NP_001012781.1:n.*18G>C
NM_000406.3:c.896G>C MANE Select NP_000397.1:p.Arg299Thr
NM_001012763.2:c.*18G>C NP_001012781.1:n.*18G>C