Canonical Allele Identifier: CA384953321
Gene: KRT6A HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.52882133A>C (hg19) chr12:g.52488349A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488349A>C , CM000674.2:g.52488349A>C GRCh38
NC_000012.11:g.52882133A>C , CM000674.1:g.52882133A>C GRCh37
NC_000012.10:g.51168400A>C NCBI36
NG_008298.1:g.10049T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1403T>G MANE Select ENSP00000369317.3:p.Leu468Arg
ENST00000330722.6:c.1403T>G ENSP00000369317.3:p.Leu468Arg
NM_005554.3:c.1403T>G NP_005545.1:p.Leu468Arg
NM_005554.4:c.1403T>G MANE Select NP_005545.1:p.Leu468Arg
Search 100 bp 5'
Search 100 bp 3'