Canonical Allele Identifier: CA2618931375
Gene: KRT5 HGNC NCBI

Linked Data

gnomAD v4: 12-52516401-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516401G>T , CM000674.2:g.52516401G>T GRCh38
NC_000012.11:g.52910185G>T , CM000674.1:g.52910185G>T GRCh37
NC_000012.10:g.51196452G>T NCBI36
NG_008297.1:g.9059C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1439+236C>A MANE Select ENSP00000252242.4:n.1439+236C>A
ENST00000252242.8:c.1439+236C>A ENSP00000252242.4:n.1439+236C>A
ENST00000548409.5:c.561+236C>A
ENST00000549511.5:n.646+236C>A
ENST00000552629.5:n.1773C>A
NM_000424.3:c.1439+236C>A NP_000415.2:n.1439+236C>A
NM_000424.4:c.1439+236C>A MANE Select NP_000415.2:n.1439+236C>A
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