Canonical Allele Identifier: CA237228575
Gene: KRT6A HGNC NCBI

Linked Data

dbSNP Id: rs761366760

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52487932T>C , CM000674.2:g.52487932T>C GRCh38
NC_000012.11:g.52881716T>C , CM000674.1:g.52881716T>C GRCh37
NC_000012.10:g.51167983T>C NCBI36
NG_008298.1:g.10466A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000330722.7:c.1483A>G MANE Select ENSP00000369317.3:p.Ser495Gly
ENST00000330722.6:c.1483A>G ENSP00000369317.3:p.Ser495Gly
NM_005554.3:c.1483A>G NP_005545.1:p.Ser495Gly
NM_005554.4:c.1483A>G MANE Select NP_005545.1:p.Ser495Gly