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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:
CA364656540
Gene: ELOVL4
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr6:g.80631390T>G (hg19)
chr6:g.79921673T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.79921673T>G , CM000668.2:g.79921673T>G
GRCh38
NC_000006.11:g.80631390T>G , CM000668.1:g.80631390T>G
GRCh37
NC_000006.10:g.80688109T>G
NCBI36
NG_009108.1:g.30926A>C
NG_009108.2:g.30926A>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000369816.5:c.493A>C
MANE Select
ENSP00000358831.4:p.Met165Leu
ENST00000369816.4:c.493A>C
ENSP00000358831.4:p.Met165Leu
NM_022726.3:c.493A>C
NP_073563.1:p.Met165Leu
NM_022726.4:c.493A>C
MANE Select
NP_073563.1:p.Met165Leu
Search 100 bp 5'
Search 100 bp 3'