Canonical Allele Identifier: CA479853857
Gene: KRT6A HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.52882321C>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488537C>G , CM000674.2:g.52488537C>G GRCh38
NC_000012.11:g.52882321C>G , CM000674.1:g.52882321C>G GRCh37
NC_000012.10:g.51168588C>G NCBI36
NG_008298.1:g.9861G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1215G>C MANE Select ENSP00000369317.3:p.Leu405=
ENST00000330722.6:c.1215G>C ENSP00000369317.3:p.Leu405=
NM_005554.3:c.1215G>C NP_005545.1:p.Leu405=
NM_005554.4:c.1215G>C MANE Select NP_005545.1:p.Leu405=
Search 100 bp 5'
Search 100 bp 3'