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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2939014
Gene: GNRHR
HGNC
NCBI
Linked Data
dbSNP Id:
rs775721426
ExAC:
4:68620040 G / A
gnomAD v2:
4-68620040-G-A
gnomAD v4:
4-67754322-G-A
MyVariant Identifiers:
chr4:g.68620040G>A (hg19)
chr4:g.67754322G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.67754322G>A , CM000666.2:g.67754322G>A
GRCh38
NC_000004.11:g.68620040G>A , CM000666.1:g.68620040G>A
GRCh37
NC_000004.10:g.68302635G>A
NCBI36
NG_009293.1:g.6765C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000226413.5:c.14C>T
MANE Select
ENSP00000226413.5:p.Ala5Val
ENST00000226413.4:c.14C>T
ENSP00000226413.4:p.Ala5Val
ENST00000420975.2:c.14C>T
ENSP00000397561.2:p.Ala5Val
NM_000406.2:c.14C>T
NP_000397.1:p.Ala5Val
NM_001012763.1:c.14C>T
NP_001012781.1:p.Ala5Val
NM_000406.3:c.14C>T
MANE Select
NP_000397.1:p.Ala5Val
NM_001012763.2:c.14C>T
NP_001012781.1:p.Ala5Val
Search 100 bp 5'
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