Canonical Allele Identifier: CA384963367
Gene: KRT6A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52492675T>G , CM000674.2:g.52492675T>G GRCh38
NC_000012.11:g.52886459T>G , CM000674.1:g.52886459T>G GRCh37
NC_000012.10:g.51172726T>G NCBI36
NG_008298.1:g.5723A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000330722.7:c.514A>C MANE Select ENSP00000369317.3:p.Asn172His
ENST00000330722.6:c.514A>C ENSP00000369317.3:p.Asn172His
ENST00000549898.5:n.35A>C
NM_005554.3:c.514A>C NP_005545.1:p.Asn172His
NM_005554.4:c.514A>C MANE Select NP_005545.1:p.Asn172His