Canonical Allele Identifier: CA170745
Gene: KRT6A HGNC NCBI

Linked Data

ClinVar Variation Id: 66576
ClinVar RCV Id: RCV000056996 RCV000144075
dbSNP Id: rs57052654
MyVariant Identifiers: chr12:g.52882130A>G (hg19) chr12:g.52488346A>G (hg38)
PubMed: PMID:16250206
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488346A>G , CM000674.2:g.52488346A>G GRCh38
NC_000012.11:g.52882130A>G , CM000674.1:g.52882130A>G GRCh37
NC_000012.10:g.51168397A>G NCBI36
NG_008298.1:g.10052T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000330722.7:c.1406T>C MANE Select ENSP00000369317.3:p.Leu469Pro
ENST00000330722.6:c.1406T>C ENSP00000369317.3:p.Leu469Pro
NM_005554.3:c.1406T>C NP_005545.1:p.Leu469Pro
NM_005554.4:c.1406T>C MANE Select NP_005545.1:p.Leu469Pro
Search 100 bp 5'
Search 100 bp 3'