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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:
CA231869311
Gene: KCNA5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1090644
ClinVar RCV Id:
RCV001409842
dbSNP Id:
rs770140095
gnomAD v3:
12-5045854-C-A
gnomAD v4:
12-5045854-C-A
MyVariant Identifiers:
chr12:g.5155020C>A (hg19)
chr12:g.5045854C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.5045854C>A , CM000674.2:g.5045854C>A
GRCh38
NC_000012.11:g.5155020C>A , CM000674.1:g.5155020C>A
GRCh37
NC_000012.10:g.5025281C>A
NCBI36
NG_012198.1:g.6936C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000252321.5:c.1707C>A
MANE Select
ENSP00000252321.3:p.Thr569=
ENST00000252321.4:c.1707C>A
ENSP00000252321.3:p.Thr569=
NM_002234.3:c.1707C>A
NP_002225.2:p.Thr569=
NM_002234.4:c.1707C>A
MANE Select
NP_002225.2:p.Thr569=
Search 100 bp 5'
Search 100 bp 3'