Canonical Allele Identifier: CA479853645
Gene: KRT6A HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.52882276G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488492G>T , CM000674.2:g.52488492G>T GRCh38
NC_000012.11:g.52882276G>T , CM000674.1:g.52882276G>T GRCh37
NC_000012.10:g.51168543G>T NCBI36
NG_008298.1:g.9906C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1260C>A MANE Select ENSP00000369317.3:p.Leu420=
ENST00000330722.6:c.1260C>A ENSP00000369317.3:p.Leu420=
NM_005554.3:c.1260C>A NP_005545.1:p.Leu420=
NM_005554.4:c.1260C>A MANE Select NP_005545.1:p.Leu420=