Canonical Allele Identifier: CA384953395
Gene: KRT6A HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.52882152T>G (hg19) chr12:g.52488368T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488368T>G , CM000674.2:g.52488368T>G GRCh38
NC_000012.11:g.52882152T>G , CM000674.1:g.52882152T>G GRCh37
NC_000012.10:g.51168419T>G NCBI36
NG_008298.1:g.10030A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1384A>C MANE Select ENSP00000369317.3:p.Ile462Leu
ENST00000330722.6:c.1384A>C ENSP00000369317.3:p.Ile462Leu
NM_005554.3:c.1384A>C NP_005545.1:p.Ile462Leu
NM_005554.4:c.1384A>C MANE Select NP_005545.1:p.Ile462Leu
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Search 100 bp 3'