Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA478095310

Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs1411907024

gnomAD v2: 12-5154237-T-C

MyVariant Identifiers: chr12:g.5154237T>C (hg19) chr12:g.5045071T>C (hg38)

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5045071T>C , CM000674.2:g.5045071T>C	GRCh38
NC_000012.11:g.5154237T>C , CM000674.1:g.5154237T>C	GRCh37
NC_000012.10:g.5024498T>C	NCBI36
NG_012198.1:g.6153T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252321.5:c.924T>C MANE Select	ENSP00000252321.3:p.Ser308=
ENST00000252321.4:c.924T>C	ENSP00000252321.3:p.Ser308=
NM_002234.3:c.924T>C	NP_002225.2:p.Ser308=
NM_002234.4:c.924T>C MANE Select	NP_002225.2:p.Ser308=

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