Canonical Allele Identifier: CA2938855
Gene: GNRHR HGNC NCBI

Linked Data

dbSNP Id: rs375559014
gnomAD v2: 4-68606408-T-A
gnomAD v3: 4-67740690-T-A
gnomAD v4: 4-67740690-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67740690T>A , CM000666.2:g.67740690T>A GRCh38
NC_000004.11:g.68606408T>A , CM000666.1:g.68606408T>A GRCh37
NC_000004.10:g.68289003T>A NCBI36
NG_009293.1:g.20397A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.777A>T MANE Select ENSP00000226413.5:p.Pro259=
ENST00000226413.4:c.777A>T ENSP00000226413.4:p.Pro259=
ENST00000420975.2:c.649A>T ENSP00000397561.2:p.Lys217Ter
NM_000406.2:c.777A>T NP_000397.1:p.Pro259=
NM_001012763.1:c.649A>T NP_001012781.1:p.Lys217Ter
NM_000406.3:c.777A>T MANE Select NP_000397.1:p.Pro259=
NM_001012763.2:c.649A>T NP_001012781.1:p.Lys217Ter