Canonical Allele Identifier: CA384952728
Gene: KRT6A HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.52881652G>C (hg19) chr12:g.52487868G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52487868G>C , CM000674.2:g.52487868G>C GRCh38
NC_000012.11:g.52881652G>C , CM000674.1:g.52881652G>C GRCh37
NC_000012.10:g.51167919G>C NCBI36
NG_008298.1:g.10530C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1547C>G MANE Select ENSP00000369317.3:p.Ser516Cys
ENST00000330722.6:c.1547C>G ENSP00000369317.3:p.Ser516Cys
NM_005554.3:c.1547C>G NP_005545.1:p.Ser516Cys
NM_005554.4:c.1547C>G MANE Select NP_005545.1:p.Ser516Cys
Search 100 bp 5'
Search 100 bp 3'