Canonical Allele Identifier: CA384974770
Gene: KRT5 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.52515040G>C
GRCh37 chr12:g.52908824G>C
Revel Score:
ENST00000252242 (MANE Select) 0.349
ENST00000456000 0.349
gnomAD v3:
12:52515040 G / C
gnomAD v4:
chr12-52515040-G-C
Joint Max Group AF 3.4e-7 (NFE)
Exomes Max Group AF 3.7e-7 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52515040G>C , CM000674.2:g.52515040G>C GRCh38
NC_000012.11:g.52908824G>C , CM000674.1:g.52908824G>C GRCh37
NC_000012.10:g.51195091G>C NCBI36
NG_008297.1:g.10420C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1675C>G MANE Select ENSP00000252242.4:p.Arg559Gly
ENST00000252242.8:c.1675C>G ENSP00000252242.4:p.Arg559Gly
ENST00000552952.1:n.600C>G
NM_000424.3:c.1675C>G NP_000415.2:p.Arg559Gly
NM_000424.4:c.1675C>G MANE Select NP_000415.2:p.Arg559Gly
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