Canonical Allele Identifier: CA2938852
Gene: GNRHR HGNC NCBI

Linked Data

dbSNP Id: rs373245608
gnomAD v2: 4-68606382-A-G
gnomAD v3: 4-67740664-A-G
gnomAD v4: 4-67740664-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67740664A>G , CM000666.2:g.67740664A>G GRCh38
NC_000004.11:g.68606382A>G , CM000666.1:g.68606382A>G GRCh37
NC_000004.10:g.68288977A>G NCBI36
NG_009293.1:g.20423T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.803T>C MANE Select ENSP00000226413.5:p.Met268Thr
ENST00000226413.4:c.803T>C ENSP00000226413.4:p.Met268Thr
ENST00000420975.2:c.675T>C ENSP00000397561.2:p.Asn225=
NM_000406.2:c.803T>C NP_000397.1:p.Met268Thr
NM_001012763.1:c.675T>C NP_001012781.1:p.Asn225=
NM_000406.3:c.803T>C MANE Select NP_000397.1:p.Met268Thr
NM_001012763.2:c.675T>C NP_001012781.1:p.Asn225=