Canonical Allele Identifier: CA384954764
Gene: KRT6A HGNC NCBI

Linked Data

gnomAD v4: 12-52488533-C-T
COSMIC: COSM940747
MyVariant Identifiers: chr12:g.52882317C>T (hg19) chr12:g.52488533C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488533C>T , CM000674.2:g.52488533C>T GRCh38
NC_000012.11:g.52882317C>T , CM000674.1:g.52882317C>T GRCh37
NC_000012.10:g.51168584C>T NCBI36
NG_008298.1:g.9865G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1219G>A MANE Select ENSP00000369317.3:p.Ala407Thr
ENST00000330722.6:c.1219G>A ENSP00000369317.3:p.Ala407Thr
NM_005554.3:c.1219G>A NP_005545.1:p.Ala407Thr
NM_005554.4:c.1219G>A MANE Select NP_005545.1:p.Ala407Thr
Search 100 bp 5'
Search 100 bp 3'