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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:
CA403365584
Gene: GIPC3
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr19:g.3590154C>G (hg19)
chr19:g.3590156C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.3590156C>G , CM000681.2:g.3590156C>G
GRCh38
NC_000019.9:g.3590154C>G , CM000681.1:g.3590154C>G
GRCh37
NC_000019.8:g.3541154C>G
NCBI36
NG_031943.1:g.9586C>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000644452.3:c.905C>G
MANE Select
ENSP00000493901.2:p.Ala302Gly
ENST00000644946.1:c.918C>G
ENSP00000495068.1:p.Gly306=
ENST00000322315.5:c.905C>G
ENSP00000319254.5:p.Ala302Gly
NM_133261.2:c.905C>G
NP_573568.1:p.Ala302Gly
XM_005259492.2:c.918C>G
XP_005259549.1:p.Gly306=
XM_005259492.3:c.918C>G
XP_005259549.1:p.Gly306=
NM_133261.3:c.905C>G
MANE Select
NP_573568.1:p.Ala302Gly
Search 100 bp 5'
Search 100 bp 3'