Canonical Allele Identifier: CA170746
Gene: KRT6A HGNC NCBI

Linked Data

ClinVar Variation Id: 66591
ClinVar RCV Id: RCV000057014 RCV000144078
dbSNP Id: rs61145796
MyVariant Identifiers: chr12:g.52886452A>G (hg19) chr12:g.52492668A>G (hg38)
PubMed: PMID:16250206
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52492668A>G , CM000674.2:g.52492668A>G GRCh38
NC_000012.11:g.52886452A>G , CM000674.1:g.52886452A>G GRCh37
NC_000012.10:g.51172719A>G NCBI36
NG_008298.1:g.5730T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.521T>C MANE Select ENSP00000369317.3:p.Phe174Ser
ENST00000330722.6:c.521T>C ENSP00000369317.3:p.Phe174Ser
ENST00000549898.5:n.42T>C
NM_005554.3:c.521T>C NP_005545.1:p.Phe174Ser
NM_005554.4:c.521T>C MANE Select NP_005545.1:p.Phe174Ser
Search 100 bp 5'
Search 100 bp 3'