Canonical Allele Identifier: CA2938860
Gene: GNRHR HGNC NCBI

Linked Data

dbSNP Id: rs746861473
gnomAD v2: 4-68606439-A-C
gnomAD v3: 4-67740721-A-C
gnomAD v4: 4-67740721-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67740721A>C , CM000666.2:g.67740721A>C GRCh38
NC_000004.11:g.68606439A>C , CM000666.1:g.68606439A>C GRCh37
NC_000004.10:g.68289034A>C NCBI36
NG_009293.1:g.20366T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.746T>G MANE Select ENSP00000226413.5:p.Leu249Arg
ENST00000226413.4:c.746T>G ENSP00000226413.4:p.Leu249Arg
ENST00000420975.2:c.618T>G ENSP00000397561.2:p.Thr206=
NM_000406.2:c.746T>G NP_000397.1:p.Leu249Arg
NM_001012763.1:c.618T>G NP_001012781.1:p.Thr206=
NM_000406.3:c.746T>G MANE Select NP_000397.1:p.Leu249Arg
NM_001012763.2:c.618T>G NP_001012781.1:p.Thr206=