Canonical Allele Identifier: CA216810
Gene: KRT5 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.52517695G>T
GRCh37 chr12:g.52911479G>T
Revel Score:
ENST00000252242 (MANE Select) 0.606
ENST00000456000 0.606
ENST00000548409 0.284
ENST00000551188 0.284
ClinVar RCV:
RCV000056657
RCV001731293
ClinVar Variation:
14642
dbSNP:
59730172
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52517695G>T , CM000674.2:g.52517695G>T GRCh38
NC_000012.11:g.52911479G>T , CM000674.1:g.52911479G>T GRCh37
NC_000012.10:g.51197746G>T NCBI36
NG_008297.1:g.7765C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.987C>A MANE Select ENSP00000252242.4:p.Asn329Lys
ENST00000252242.8:c.987C>A ENSP00000252242.4:p.Asn329Lys
ENST00000547890.5:n.116C>A
ENST00000548409.5:c.109C>A
ENST00000549511.5:n.194C>A
ENST00000551013.1:n.625C>A
ENST00000551188.5:c.430C>A
ENST00000552629.5:n.1085C>A
NM_000424.3:c.987C>A NP_000415.2:p.Asn329Lys
NM_000424.4:c.987C>A MANE Select NP_000415.2:p.Asn329Lys
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