Canonical Allele Identifier: CA217353
Gene: KRT6A HGNC NCBI

Linked Data

ClinVar Variation Id: 66587
ClinVar RCV Id: RCV000057009
dbSNP Id: rs58556099
MyVariant Identifiers: chr12:g.52886461T>G (hg19) chr12:g.52492677T>G (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.512A>C MANE Select ENSP00000369317.3:p.Asn171Thr
ENST00000330722.6:c.512A>C ENSP00000369317.3:p.Asn171Thr
ENST00000549898.5:n.33A>C
NM_005554.3:c.512A>C NP_005545.1:p.Asn171Thr
NM_005554.4:c.512A>C MANE Select NP_005545.1:p.Asn171Thr
Search 100 bp 5'
Search 100 bp 3'