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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:
CA397313030
Gene: KIF1C
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr17:g.4925571G>T (hg19)
chr17:g.5022276G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.5022276G>T , CM000679.2:g.5022276G>T
GRCh38
NC_000017.10:g.4925571G>T , CM000679.1:g.4925571G>T
GRCh37
NC_000017.9:g.4866295G>T
NCBI36
NG_034137.1:g.29329G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000320785.10:c.2195G>T
MANE Select
ENSP00000320821.5:p.Arg732Leu
ENST00000320785.9:c.2195G>T
ENSP00000320821.5:p.Arg732Leu
NM_006612.5:c.2195G>T
NP_006603.2:p.Arg732Leu
XM_005256424.1:c.2195G>T
XP_005256481.1:p.Arg732Leu
XM_005256424.2:c.2195G>T
XP_005256481.1:p.Arg732Leu
NM_006612.6:c.2195G>T
MANE Select
NP_006603.2:p.Arg732Leu
Search 100 bp 5'
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