Canonical Allele Identifier: CA384952918
Gene: KRT6A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52487925T>C , CM000674.2:g.52487925T>C GRCh38
NC_000012.11:g.52881709T>C , CM000674.1:g.52881709T>C GRCh37
NC_000012.10:g.51167976T>C NCBI36
NG_008298.1:g.10473A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1490A>G MANE Select ENSP00000369317.3:p.Tyr497Cys
ENST00000330722.6:c.1490A>G ENSP00000369317.3:p.Tyr497Cys
NM_005554.3:c.1490A>G NP_005545.1:p.Tyr497Cys
NM_005554.4:c.1490A>G MANE Select NP_005545.1:p.Tyr497Cys