Canonical Allele Identifier: CA947707298
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs1938677210
gnomAD v3: 12-52519673-T-G
gnomAD v4: 12-52519673-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519673T>G , CM000674.2:g.52519673T>G GRCh38
NC_000012.11:g.52913457T>G , CM000674.1:g.52913457T>G GRCh37
NC_000012.10:g.51199724T>G NCBI36
NG_008297.1:g.5787A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.555+69A>C MANE Select ENSP00000252242.4:n.555+69A>C
ENST00000252242.8:c.555+69A>C ENSP00000252242.4:n.555+69A>C
ENST00000549420.1:c.225+69A>C ENSP00000447209.1:n.225+69A>C
ENST00000552629.5:n.653+69A>C
NM_000424.3:c.555+69A>C NP_000415.2:n.555+69A>C
NM_000424.4:c.555+69A>C MANE Select NP_000415.2:n.555+69A>C
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