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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:
CA373510520
Gene: ALDH1B1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.38396331C>T (hg19)
chr9:g.38396334C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.38396334C>T , CM000671.2:g.38396334C>T
GRCh38
NC_000009.11:g.38396331C>T , CM000671.1:g.38396331C>T
GRCh37
NC_000009.10:g.38386331C>T
NCBI36
NG_012253.1:g.8630C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000377698.4:c.586C>T
MANE Select
ENSP00000366927.3:p.Leu196Phe
ENST00000377698.3:c.586C>T
ENSP00000366927.3:p.Leu196Phe
NM_000692.4:c.586C>T
NP_000683.3:p.Leu196Phe
XM_011517802.1:c.586C>T
XP_011516104.1:p.Leu196Phe
XM_011517802.2:c.586C>T
XP_011516104.1:p.Leu196Phe
NM_000692.5:c.586C>T
MANE Select
NP_000683.3:p.Leu196Phe
Search 100 bp 5'
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