Canonical Allele Identifier: CA384953583
Gene: KRT6A HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.52882203G>T (hg19) chr12:g.52488419G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488419G>T , CM000674.2:g.52488419G>T GRCh38
NC_000012.11:g.52882203G>T , CM000674.1:g.52882203G>T GRCh37
NC_000012.10:g.51168470G>T NCBI36
NG_008298.1:g.9979C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1333C>A MANE Select ENSP00000369317.3:p.Leu445Met
ENST00000330722.6:c.1333C>A ENSP00000369317.3:p.Leu445Met
NM_005554.3:c.1333C>A NP_005545.1:p.Leu445Met
NM_005554.4:c.1333C>A MANE Select NP_005545.1:p.Leu445Met
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