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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:
CA362722243
Gene: GCM2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr6:g.10874383C>G (hg19)
chr6:g.10874150C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.10874150C>G , CM000668.2:g.10874150C>G
GRCh38
NC_000006.11:g.10874383C>G , CM000668.1:g.10874383C>G
GRCh37
NC_000006.10:g.10982369C>G
NCBI36
NG_008970.1:g.12716G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000379491.5:c.1366G>C
MANE Select
ENSP00000368805.4:p.Ala456Pro
ENST00000379491.4:c.1366G>C
ENSP00000368805.4:p.Ala456Pro
ENST00000480294.1:c.101-17363C>G
ENSP00000417929.1:n.101-17363C>G
NM_004752.3:c.1366G>C
NP_004743.1:p.Ala456Pro
XM_011514991.1:c.1366G>C
XP_011513293.1:p.Ala456Pro
NM_004752.4:c.1366G>C
MANE Select
NP_004743.1:p.Ala456Pro
Search 100 bp 5'
Search 100 bp 3'