Canonical Allele Identifier: CA384953061
Gene: KRT6A HGNC NCBI

Linked Data

dbSNP Id: rs1397856467
MyVariant Identifiers: chr12:g.52881737C>T (hg19) chr12:g.52487953C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52487953C>T , CM000674.2:g.52487953C>T GRCh38
NC_000012.11:g.52881737C>T , CM000674.1:g.52881737C>T GRCh37
NC_000012.10:g.51168004C>T NCBI36
NG_008298.1:g.10445G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1462G>A MANE Select ENSP00000369317.3:p.Val488Met
ENST00000330722.6:c.1462G>A ENSP00000369317.3:p.Val488Met
NM_005554.3:c.1462G>A NP_005545.1:p.Val488Met
NM_005554.4:c.1462G>A MANE Select NP_005545.1:p.Val488Met
Search 100 bp 5'
Search 100 bp 3'