Canonical Allele Identifier: CA384963400
Gene: KRT6A HGNC NCBI

Linked Data

dbSNP Id: rs1399692133
gnomAD v2: 12-52886467-G-T
gnomAD v3: 12-52492683-G-T
gnomAD v4: 12-52492683-G-T
MyVariant Identifiers: chr12:g.52886467G>T (hg19) chr12:g.52492683G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52492683G>T , CM000674.2:g.52492683G>T GRCh38
NC_000012.11:g.52886467G>T , CM000674.1:g.52886467G>T GRCh37
NC_000012.10:g.51172734G>T NCBI36
NG_008298.1:g.5715C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.506C>A MANE Select ENSP00000369317.3:p.Thr169Asn
ENST00000330722.6:c.506C>A ENSP00000369317.3:p.Thr169Asn
ENST00000549898.5:n.27C>A
NM_005554.3:c.506C>A NP_005545.1:p.Thr169Asn
NM_005554.4:c.506C>A MANE Select NP_005545.1:p.Thr169Asn
Search 100 bp 5'
Search 100 bp 3'