Canonical Allele Identifier: CA384954402
Gene: KRT6A HGNC NCBI

Linked Data

dbSNP Id: rs1938191951

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488480C>A , CM000674.2:g.52488480C>A GRCh38
NC_000012.11:g.52882264C>A , CM000674.1:g.52882264C>A GRCh37
NC_000012.10:g.51168531C>A NCBI36
NG_008298.1:g.9918G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1272G>T MANE Select ENSP00000369317.3:p.Lys424Asn
ENST00000330722.6:c.1272G>T ENSP00000369317.3:p.Lys424Asn
NM_005554.3:c.1272G>T NP_005545.1:p.Lys424Asn
NM_005554.4:c.1272G>T MANE Select NP_005545.1:p.Lys424Asn