Canonical Allele Identifier: CA384954484
Gene: KRT6A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488494G>C , CM000674.2:g.52488494G>C GRCh38
NC_000012.11:g.52882278G>C , CM000674.1:g.52882278G>C GRCh37
NC_000012.10:g.51168545G>C NCBI36
NG_008298.1:g.9904C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1258C>G MANE Select ENSP00000369317.3:p.Leu420Val
ENST00000330722.6:c.1258C>G ENSP00000369317.3:p.Leu420Val
NM_005554.3:c.1258C>G NP_005545.1:p.Leu420Val
NM_005554.4:c.1258C>G MANE Select NP_005545.1:p.Leu420Val