Canonical Allele Identifier: CA439931558
Gene: GNRHR HGNC NCBI

Linked Data

dbSNP Id: rs1391808526
gnomAD v3: 4-67754089-G-A
gnomAD v4: 4-67754089-G-A
MyVariant Identifiers: chr4:g.68619807G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67754089G>A , CM000666.2:g.67754089G>A GRCh38
NC_000004.11:g.68619807G>A , CM000666.1:g.68619807G>A GRCh37
NC_000004.10:g.68302402G>A NCBI36
NG_009293.1:g.6998C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.247C>T MANE Select ENSP00000226413.5:p.Leu83=
ENST00000226413.4:c.247C>T ENSP00000226413.4:p.Leu83=
ENST00000420975.2:c.247C>T ENSP00000397561.2:p.Leu83=
NM_000406.2:c.247C>T NP_000397.1:p.Leu83=
NM_001012763.1:c.247C>T NP_001012781.1:p.Leu83=
NM_000406.3:c.247C>T MANE Select NP_000397.1:p.Leu83=
NM_001012763.2:c.247C>T NP_001012781.1:p.Leu83=
Search 100 bp 5'
Search 100 bp 3'