Canonical Allele Identifier: CA2739272069
Gene: KRT6A HGNC NCBI

Linked Data

ClinVar Variation Id: 2849094
ClinVar RCV Id: RCV003695547
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488052C>T , CM000674.2:g.52488052C>T GRCh38
NC_000012.11:g.52881836C>T , CM000674.1:g.52881836C>T GRCh37
NC_000012.10:g.51168103C>T NCBI36
NG_008298.1:g.10346G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1459+17G>A MANE Select ENSP00000369317.3:n.1459+17G>A
ENST00000330722.6:c.1459+17G>A ENSP00000369317.3:n.1459+17G>A
NM_005554.3:c.1459+17G>A NP_005545.1:n.1459+17G>A
NM_005554.4:c.1459+17G>A MANE Select NP_005545.1:n.1459+17G>A
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