Canonical Allele Identifier: CA384954548
Gene: KRT6A HGNC NCBI

Linked Data

dbSNP Id: rs1938192524

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488505C>T , CM000674.2:g.52488505C>T GRCh38
NC_000012.11:g.52882289C>T , CM000674.1:g.52882289C>T GRCh37
NC_000012.10:g.51168556C>T NCBI36
NG_008298.1:g.9893G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1247G>A MANE Select ENSP00000369317.3:p.Gly416Glu
ENST00000330722.6:c.1247G>A ENSP00000369317.3:p.Gly416Glu
NM_005554.3:c.1247G>A NP_005545.1:p.Gly416Glu
NM_005554.4:c.1247G>A MANE Select NP_005545.1:p.Gly416Glu