Canonical Allele Identifier: CA357048423
Gene: GNRHR HGNC NCBI

Linked Data

dbSNP Id: rs886059566
gnomAD v2: 4-68606412-A-T
gnomAD v3: 4-67740694-A-T
gnomAD v4: 4-67740694-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67740694A>T , CM000666.2:g.67740694A>T GRCh38
NC_000004.11:g.68606412A>T , CM000666.1:g.68606412A>T GRCh37
NC_000004.10:g.68289007A>T NCBI36
NG_009293.1:g.20393T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.773T>A MANE Select ENSP00000226413.5:p.Ile258Lys
ENST00000226413.4:c.773T>A ENSP00000226413.4:p.Ile258Lys
ENST00000420975.2:c.645T>A ENSP00000397561.2:p.Tyr215Ter
NM_000406.2:c.773T>A NP_000397.1:p.Ile258Lys
NM_001012763.1:c.645T>A NP_001012781.1:p.Tyr215Ter
NM_000406.3:c.773T>A MANE Select NP_000397.1:p.Ile258Lys
NM_001012763.2:c.645T>A NP_001012781.1:p.Tyr215Ter