Canonical Allele Identifier: CA384952749
Gene: KRT6A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52487875T>G , CM000674.2:g.52487875T>G GRCh38
NC_000012.11:g.52881659T>G , CM000674.1:g.52881659T>G GRCh37
NC_000012.10:g.51167926T>G NCBI36
NG_008298.1:g.10523A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1540A>C MANE Select ENSP00000369317.3:p.Ser514Arg
ENST00000330722.6:c.1540A>C ENSP00000369317.3:p.Ser514Arg
NM_005554.3:c.1540A>C NP_005545.1:p.Ser514Arg
NM_005554.4:c.1540A>C MANE Select NP_005545.1:p.Ser514Arg