Canonical Allele Identifier: CA217355
Gene: KRT6A HGNC NCBI

Linked Data

ClinVar Variation Id: 66588
ClinVar RCV Id: RCV000057010 RCV000128820
dbSNP Id: rs58556099
MyVariant Identifiers: chr12:g.52886461T>C (hg19) chr12:g.52492677T>C (hg38)
PubMed: PMID:16250206 PMID:20301457
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52492677T>C , CM000674.2:g.52492677T>C GRCh38
NC_000012.11:g.52886461T>C , CM000674.1:g.52886461T>C GRCh37
NC_000012.10:g.51172728T>C NCBI36
NG_008298.1:g.5721A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000330722.7:c.512A>G MANE Select ENSP00000369317.3:p.Asn171Ser
ENST00000330722.6:c.512A>G ENSP00000369317.3:p.Asn171Ser
ENST00000549898.5:n.33A>G
NM_005554.3:c.512A>G NP_005545.1:p.Asn171Ser
NM_005554.4:c.512A>G MANE Select NP_005545.1:p.Asn171Ser
Search 100 bp 5'
Search 100 bp 3'