Canonical Allele Identifier: CA2036538736
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs1480376988
gnomAD v4: 12-52516319-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516319G>C , CM000674.2:g.52516319G>C GRCh38
NC_000012.11:g.52910103G>C , CM000674.1:g.52910103G>C GRCh37
NC_000012.10:g.51196370G>C NCBI36
NG_008297.1:g.9141C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1439+318C>G MANE Select ENSP00000252242.4:n.1439+318C>G
ENST00000252242.8:c.1439+318C>G ENSP00000252242.4:n.1439+318C>G
ENST00000548409.5:c.561+318C>G
ENST00000549511.5:n.646+318C>G
ENST00000552629.5:n.1855C>G
NM_000424.3:c.1439+318C>G NP_000415.2:n.1439+318C>G
NM_000424.4:c.1439+318C>G MANE Select NP_000415.2:n.1439+318C>G
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