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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:
CA377361597
Gene: MAT1A
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr10:g.82036146T>G (hg19)
chr10:g.80276390T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.80276390T>G , CM000672.2:g.80276390T>G
GRCh38
NC_000010.10:g.82036146T>G , CM000672.1:g.82036146T>G
GRCh37
NC_000010.9:g.82026126T>G
NCBI36
NG_008083.1:g.18289A>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000372213.8:c.754A>C
MANE Select
ENSP00000361287.3:p.Ile252Leu
ENST00000372213.7:c.754A>C
ENSP00000361287.3:p.Ile252Leu
NM_000429.2:c.754A>C
NP_000420.1:p.Ile252Leu
XM_005269842.3:c.754A>C
XP_005269899.1:p.Ile252Leu
XM_005269843.3:c.631A>C
XP_005269900.1:p.Ile211Leu
NM_000429.3:c.754A>C
MANE Select
NP_000420.1:p.Ile252Leu
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