Canonical Allele Identifier: CA237229200
Gene: KRT6A HGNC NCBI

Linked Data

dbSNP Id: rs969822068

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52488430A>G , CM000674.2:g.52488430A>G GRCh38
NC_000012.11:g.52882214A>G , CM000674.1:g.52882214A>G GRCh37
NC_000012.10:g.51168481A>G NCBI36
NG_008298.1:g.9968T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1322T>C MANE Select ENSP00000369317.3:p.Leu441Pro
ENST00000330722.6:c.1322T>C ENSP00000369317.3:p.Leu441Pro
NM_005554.3:c.1322T>C NP_005545.1:p.Leu441Pro
NM_005554.4:c.1322T>C MANE Select NP_005545.1:p.Leu441Pro