Canonical Allele Identifier: CA357047264
Gene: GNRHR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67740520G>A , CM000666.2:g.67740520G>A GRCh38
NC_000004.11:g.68606238G>A , CM000666.1:g.68606238G>A GRCh37
NC_000004.10:g.68288833G>A NCBI36
NG_009293.1:g.20567C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.947C>T MANE Select ENSP00000226413.5:p.Pro316Leu
ENST00000226413.4:c.947C>T ENSP00000226413.4:p.Pro316Leu
ENST00000420975.2:c.819C>T ENSP00000397561.2:n.819C>T
NM_000406.2:c.947C>T NP_000397.1:p.Pro316Leu
NM_001012763.1:c.*69C>T NP_001012781.1:n.*69C>T
NM_000406.3:c.947C>T MANE Select NP_000397.1:p.Pro316Leu
NM_001012763.2:c.*69C>T NP_001012781.1:n.*69C>T