Canonical Allele Identifier: CA384963631
Gene: KRT6A HGNC NCBI

Linked Data

gnomAD v4: 12-52492708-C-T
MyVariant Identifiers: chr12:g.52886492C>T (hg19) chr12:g.52492708C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52492708C>T , CM000674.2:g.52492708C>T GRCh38
NC_000012.11:g.52886492C>T , CM000674.1:g.52886492C>T GRCh37
NC_000012.10:g.51172759C>T NCBI36
NG_008298.1:g.5690G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.481G>A MANE Select ENSP00000369317.3:p.Ala161Thr
ENST00000330722.6:c.481G>A ENSP00000369317.3:p.Ala161Thr
ENST00000549898.5:n.2G>A
NM_005554.3:c.481G>A NP_005545.1:p.Ala161Thr
NM_005554.4:c.481G>A MANE Select NP_005545.1:p.Ala161Thr
Search 100 bp 5'
Search 100 bp 3'