Canonical Allele Identifier: CA2618931444
Gene: KRT5 HGNC NCBI

Linked Data

gnomAD v4: 12-52516420-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516420A>G , CM000674.2:g.52516420A>G GRCh38
NC_000012.11:g.52910204A>G , CM000674.1:g.52910204A>G GRCh37
NC_000012.10:g.51196471A>G NCBI36
NG_008297.1:g.9040T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1439+217T>C MANE Select ENSP00000252242.4:n.1439+217T>C
ENST00000252242.8:c.1439+217T>C ENSP00000252242.4:n.1439+217T>C
ENST00000548409.5:c.561+217T>C
ENST00000549511.5:n.646+217T>C
ENST00000552629.5:n.1754T>C
NM_000424.3:c.1439+217T>C NP_000415.2:n.1439+217T>C
NM_000424.4:c.1439+217T>C MANE Select NP_000415.2:n.1439+217T>C
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