Canonical Allele Identifier: CA384923936
Gene: KRT5 HGNC NCBI

Linked Data

gnomAD v4: 12-52516746-G-C
MyVariant Identifiers: chr12:g.52910530G>C (hg19) chr12:g.52516746G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516746G>C , CM000674.2:g.52516746G>C GRCh38
NC_000012.11:g.52910530G>C , CM000674.1:g.52910530G>C GRCh37
NC_000012.10:g.51196797G>C NCBI36
NG_008297.1:g.8714C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1330C>G MANE Select ENSP00000252242.4:p.Gln444Glu
ENST00000252242.8:c.1330C>G ENSP00000252242.4:p.Gln444Glu
ENST00000547890.5:n.708C>G
ENST00000548409.5:c.452C>G
ENST00000549511.5:n.537C>G
ENST00000552629.5:n.1428C>G
NM_000424.3:c.1330C>G NP_000415.2:p.Gln444Glu
NM_000424.4:c.1330C>G MANE Select NP_000415.2:p.Gln444Glu
Search 100 bp 5'
Search 100 bp 3'