Canonical Allele Identifier: CA384953344
Gene: KRT6A HGNC NCBI

Linked Data

dbSNP Id: rs376556886
gnomAD v4: 12-52488355-C-A
MyVariant Identifiers: chr12:g.52882139C>A (hg19) chr12:g.52488355C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488355C>A , CM000674.2:g.52488355C>A GRCh38
NC_000012.11:g.52882139C>A , CM000674.1:g.52882139C>A GRCh37
NC_000012.10:g.51168406C>A NCBI36
NG_008298.1:g.10043G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1397G>T MANE Select ENSP00000369317.3:p.Arg466Leu
ENST00000330722.6:c.1397G>T ENSP00000369317.3:p.Arg466Leu
NM_005554.3:c.1397G>T NP_005545.1:p.Arg466Leu
NM_005554.4:c.1397G>T MANE Select NP_005545.1:p.Arg466Leu
Search 100 bp 5'
Search 100 bp 3'