Canonical Allele Identifier: CA384952684
Gene: KRT6A HGNC NCBI

Linked Data

dbSNP Id: rs1180399562

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52487859C>G , CM000674.2:g.52487859C>G GRCh38
NC_000012.11:g.52881643C>G , CM000674.1:g.52881643C>G GRCh37
NC_000012.10:g.51167910C>G NCBI36
NG_008298.1:g.10539G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1556G>C MANE Select ENSP00000369317.3:p.Ser519Thr
ENST00000330722.6:c.1556G>C ENSP00000369317.3:p.Ser519Thr
NM_005554.3:c.1556G>C NP_005545.1:p.Ser519Thr
NM_005554.4:c.1556G>C MANE Select NP_005545.1:p.Ser519Thr