Canonical Allele Identifier: CA216776
Gene: KRT5 HGNC NCBI
COSMIC:
COSM3736062 (not active)
MyVariant.info:
GRCh38 chr12:g.52519125G>T
GRCh37 chr12:g.52912909G>T
Revel Score:
ENST00000252242 (MANE Select) 0.359
ENST00000456000 0.359
ENST00000549420 0.359
gnomAD v2:
12:52912909 G / T
gnomAD v3:
12:52519125 G / T
gnomAD v4:
chr12-52519125-G-T
Joint Max Group AF 0.37950233 (EAS)
Genomes Max Group AF 0.34312186 (EAS)
Exomes Max Group AF 0.38278367 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519125G>T , CM000674.2:g.52519125G>T GRCh38
NC_000012.11:g.52912909G>T , CM000674.1:g.52912909G>T GRCh37
NC_000012.10:g.51199176G>T NCBI36
NG_008297.1:g.6335C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.591C>A MANE Select ENSP00000252242.4:p.Asp197Glu
ENST00000252242.8:c.591C>A ENSP00000252242.4:p.Asp197Glu
ENST00000549420.1:c.261C>A ENSP00000447209.1:p.Asp87Glu
ENST00000551013.1:n.119C>A
ENST00000552629.5:n.689C>A
NM_000424.3:c.591C>A NP_000415.2:p.Asp197Glu
NM_000424.4:c.591C>A MANE Select NP_000415.2:p.Asp197Glu
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