Canonical Allele Identifier: CA384963169
Gene: KRT6A HGNC NCBI

Linked Data

gnomAD v4: 12-52492653-T-A
MyVariant Identifiers: chr12:g.52886437T>A (hg19) chr12:g.52492653T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52492653T>A , CM000674.2:g.52492653T>A GRCh38
NC_000012.11:g.52886437T>A , CM000674.1:g.52886437T>A GRCh37
NC_000012.10:g.51172704T>A NCBI36
NG_008298.1:g.5745A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.536A>T MANE Select ENSP00000369317.3:p.Asp179Val
ENST00000330722.6:c.536A>T ENSP00000369317.3:p.Asp179Val
ENST00000549898.5:n.57A>T
NM_005554.3:c.536A>T NP_005545.1:p.Asp179Val
NM_005554.4:c.536A>T MANE Select NP_005545.1:p.Asp179Val
Search 100 bp 5'
Search 100 bp 3'