Canonical Allele Identifier: CA2938965
Gene: GNRHR HGNC NCBI

Linked Data

ClinVar Variation Id: 632446
dbSNP Id: rs367560743
gnomAD v2: 4-68619773-A-G
gnomAD v3: 4-67754055-A-G
gnomAD v4: 4-67754055-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67754055A>G , CM000666.2:g.67754055A>G GRCh38
NC_000004.11:g.68619773A>G , CM000666.1:g.68619773A>G GRCh37
NC_000004.10:g.68302368A>G NCBI36
NG_009293.1:g.7032T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226413.5:c.281T>C MANE Select ENSP00000226413.5:p.Val94Ala
ENST00000226413.4:c.281T>C ENSP00000226413.4:p.Val94Ala
ENST00000420975.2:c.281T>C ENSP00000397561.2:p.Val94Ala
NM_000406.2:c.281T>C NP_000397.1:p.Val94Ala
NM_001012763.1:c.281T>C NP_001012781.1:p.Val94Ala
NM_000406.3:c.281T>C MANE Select NP_000397.1:p.Val94Ala
NM_001012763.2:c.281T>C NP_001012781.1:p.Val94Ala