Canonical Allele Identifier: CA6581825
Gene: KRT6A HGNC NCBI

Linked Data

ClinVar Variation Id: 2588365
ClinVar RCV Id: RCV003339323 RCV003561315
dbSNP Id: rs201376827
ExAC: 12:52881871 C / T
gnomAD v2: 12-52881871-C-T
gnomAD v3: 12-52488087-C-T
gnomAD v4: 12-52488087-C-T
MyVariant Identifiers: chr12:g.52881871C>T (hg19) chr12:g.52488087C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488087C>T , CM000674.2:g.52488087C>T GRCh38
NC_000012.11:g.52881871C>T , CM000674.1:g.52881871C>T GRCh37
NC_000012.10:g.51168138C>T NCBI36
NG_008298.1:g.10311G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1441G>A MANE Select ENSP00000369317.3:p.Val481Ile
ENST00000330722.6:c.1441G>A ENSP00000369317.3:p.Val481Ile
NM_005554.3:c.1441G>A NP_005545.1:p.Val481Ile
NM_005554.4:c.1441G>A MANE Select NP_005545.1:p.Val481Ile
Search 100 bp 5'
Search 100 bp 3'