Canonical Allele Identifier: CA98667586
Gene: GNRHR HGNC NCBI

Linked Data

dbSNP Id: rs915268973
gnomAD v2: 4-68606417-G-A
gnomAD v3: 4-67740699-G-A
gnomAD v4: 4-67740699-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67740699G>A , CM000666.2:g.67740699G>A GRCh38
NC_000004.11:g.68606417G>A , CM000666.1:g.68606417G>A GRCh37
NC_000004.10:g.68289012G>A NCBI36
NG_009293.1:g.20388C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.768C>T MANE Select ENSP00000226413.5:p.Asn256=
ENST00000226413.4:c.768C>T ENSP00000226413.4:p.Asn256=
ENST00000420975.2:c.640C>T ENSP00000397561.2:p.Gln214Ter
NM_000406.2:c.768C>T NP_000397.1:p.Asn256=
NM_001012763.1:c.640C>T NP_001012781.1:p.Gln214Ter
NM_000406.3:c.768C>T MANE Select NP_000397.1:p.Asn256=
NM_001012763.2:c.640C>T NP_001012781.1:p.Gln214Ter