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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:
CA439191841
Gene: GRXCR1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1418789614
gnomAD v2:
4-42895577-C-T
gnomAD v4:
4-42893560-C-T
MyVariant Identifiers:
chr4:g.42895577C>T (hg19)
chr4:g.42893560C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.42893560C>T , CM000666.2:g.42893560C>T
GRCh38
NC_000004.11:g.42895577C>T , CM000666.1:g.42895577C>T
GRCh37
NC_000004.10:g.42590334C>T
NCBI36
NG_027718.1:g.5295C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000399770.3:c.294C>T
MANE Select
ENSP00000382670.2:p.Asn98=
ENST00000399770.2:c.294C>T
ENSP00000382670.2:p.Asn98=
NM_001080476.2:c.294C>T
NP_001073945.1:p.Asn98=
NM_001080476.3:c.294C>T
MANE Select
NP_001073945.1:p.Asn98=
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