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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:
CA362724665
Gene: GCM2
HGNC
NCBI
Linked Data
gnomAD v4:
6-10877214-G-A
MyVariant Identifiers:
chr6:g.10877447G>A (hg19)
chr6:g.10877214G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.10877214G>A , CM000668.2:g.10877214G>A
GRCh38
NC_000006.11:g.10877447G>A , CM000668.1:g.10877447G>A
GRCh37
NC_000006.10:g.10985433G>A
NCBI36
NG_008970.1:g.9652C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000379491.5:c.269C>T
MANE Select
ENSP00000368805.4:p.Ala90Val
ENST00000379491.4:c.269C>T
ENSP00000368805.4:p.Ala90Val
ENST00000480294.1:c.101-14299G>A
ENSP00000417929.1:n.101-14299G>A
NM_004752.3:c.269C>T
NP_004743.1:p.Ala90Val
XM_011514991.1:c.269C>T
XP_011513293.1:p.Ala90Val
NM_004752.4:c.269C>T
MANE Select
NP_004743.1:p.Ala90Val
Search 100 bp 5'
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