Canonical Allele Identifier: CA357048348
Gene: GNRHR HGNC NCBI

Linked Data

gnomAD v4: 4-67740685-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67740685G>A , CM000666.2:g.67740685G>A GRCh38
NC_000004.11:g.68606403G>A , CM000666.1:g.68606403G>A GRCh37
NC_000004.10:g.68288998G>A NCBI36
NG_009293.1:g.20402C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.782C>T MANE Select ENSP00000226413.5:p.Ala261Val
ENST00000226413.4:c.782C>T ENSP00000226413.4:p.Ala261Val
ENST00000420975.2:c.654C>T ENSP00000397561.2:p.Ser218=
NM_000406.2:c.782C>T NP_000397.1:p.Ala261Val
NM_001012763.1:c.654C>T NP_001012781.1:p.Ser218=
NM_000406.3:c.782C>T MANE Select NP_000397.1:p.Ala261Val
NM_001012763.2:c.654C>T NP_001012781.1:p.Ser218=