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: CA399482605

Gene: KRT14 HGNC NCBI

Linked Data

dbSNP Id: rs1227334096

gnomAD v4: 17-41586485-A-G

MyVariant Identifiers: chr17:g.39742737A>G (hg19) chr17:g.41586485A>G (hg38)

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41586485A>G , CM000679.2:g.41586485A>G	GRCh38
NC_000017.10:g.39742737A>G , CM000679.1:g.39742737A>G	GRCh37
NC_000017.9:g.36996263A>G	NCBI36
NG_008624.1:g.5411T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000167586.7:c.350T>C MANE Select	ENSP00000167586.6:p.Val117Ala
ENST00000167586.6:c.350T>C	ENSP00000167586.6:p.Val117Ala
NM_000526.4:c.350T>C	NP_000517.2:p.Val117Ala
NM_000526.5:c.350T>C MANE Select	NP_000517.3:p.Val117Ala

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