Canonical Allele Identifier: CA384953421
Gene: KRT6A HGNC NCBI

Linked Data

gnomAD v4: 12-52488375-G-T
MyVariant Identifiers: chr12:g.52882159G>T (hg19) chr12:g.52488375G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488375G>T , CM000674.2:g.52488375G>T GRCh38
NC_000012.11:g.52882159G>T , CM000674.1:g.52882159G>T GRCh37
NC_000012.10:g.51168426G>T NCBI36
NG_008298.1:g.10023C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1377C>A MANE Select ENSP00000369317.3:p.Asp459Glu
ENST00000330722.6:c.1377C>A ENSP00000369317.3:p.Asp459Glu
NM_005554.3:c.1377C>A NP_005545.1:p.Asp459Glu
NM_005554.4:c.1377C>A MANE Select NP_005545.1:p.Asp459Glu
Search 100 bp 5'
Search 100 bp 3'