Canonical Allele Identifier: CA384924006
Gene: KRT5 HGNC NCBI

Linked Data

gnomAD v4: 12-52516758-G-A
MyVariant Identifiers: chr12:g.52910542G>A (hg19) chr12:g.52516758G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516758G>A , CM000674.2:g.52516758G>A GRCh38
NC_000012.11:g.52910542G>A , CM000674.1:g.52910542G>A GRCh37
NC_000012.10:g.51196809G>A NCBI36
NG_008297.1:g.8702C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1318C>T MANE Select ENSP00000252242.4:p.Gln440Ter
ENST00000252242.8:c.1318C>T ENSP00000252242.4:p.Gln440Ter
ENST00000547890.5:n.696C>T
ENST00000548409.5:c.440C>T
ENST00000549511.5:n.525C>T
ENST00000552629.5:n.1416C>T
NM_000424.3:c.1318C>T NP_000415.2:p.Gln440Ter
NM_000424.4:c.1318C>T MANE Select NP_000415.2:p.Gln440Ter
Search 100 bp 5'
Search 100 bp 3'