Canonical Allele Identifier: CA217352
Gene: KRT6A HGNC NCBI

Linked Data

ClinVar Variation Id: 66586
ClinVar RCV Id: RCV000057008 RCV000128819
dbSNP Id: rs62635294
MyVariant Identifiers: chr12:g.52886462T>A (hg19) chr12:g.52492678T>A (hg38)
PubMed: PMID:20301457
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52492678T>A , CM000674.2:g.52492678T>A GRCh38
NC_000012.11:g.52886462T>A , CM000674.1:g.52886462T>A GRCh37
NC_000012.10:g.51172729T>A NCBI36
NG_008298.1:g.5720A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.511A>T MANE Select ENSP00000369317.3:p.Asn171Tyr
ENST00000330722.6:c.511A>T ENSP00000369317.3:p.Asn171Tyr
ENST00000549898.5:n.32A>T
NM_005554.3:c.511A>T NP_005545.1:p.Asn171Tyr
NM_005554.4:c.511A>T MANE Select NP_005545.1:p.Asn171Tyr
Search 100 bp 5'
Search 100 bp 3'