Canonical Allele Identifier: CA480069721
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs767296169
gnomAD v4: 12-52516734-G-T
MyVariant Identifiers: chr12:g.52910518G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516734G>T , CM000674.2:g.52516734G>T GRCh38
NC_000012.11:g.52910518G>T , CM000674.1:g.52910518G>T GRCh37
NC_000012.10:g.51196785G>T NCBI36
NG_008297.1:g.8726C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252242.9:c.1342C>A MANE Select ENSP00000252242.4:p.Arg448=
ENST00000252242.8:c.1342C>A ENSP00000252242.4:p.Arg448=
ENST00000547890.5:n.720C>A
ENST00000548409.5:c.464C>A
ENST00000549511.5:n.549C>A
ENST00000552629.5:n.1440C>A
NM_000424.3:c.1342C>A NP_000415.2:p.Arg448=
NM_000424.4:c.1342C>A MANE Select NP_000415.2:p.Arg448=
Search 100 bp 5'
Search 100 bp 3'