Canonical Allele Identifier: CA384952786
Gene: KRT6A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52487893C>G , CM000674.2:g.52487893C>G GRCh38
NC_000012.11:g.52881677C>G , CM000674.1:g.52881677C>G GRCh37
NC_000012.10:g.51167944C>G NCBI36
NG_008298.1:g.10505G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1522G>C MANE Select ENSP00000369317.3:p.Gly508Arg
ENST00000330722.6:c.1522G>C ENSP00000369317.3:p.Gly508Arg
NM_005554.3:c.1522G>C NP_005545.1:p.Gly508Arg
NM_005554.4:c.1522G>C MANE Select NP_005545.1:p.Gly508Arg