Canonical Allele Identifier: CA237228958
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs918692521
gnomAD v4: 12-52519642-A-G
MyVariant Identifiers: chr12:g.52913426A>G (hg19) chr12:g.52519642A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519642A>G , CM000674.2:g.52519642A>G GRCh38
NC_000012.11:g.52913426A>G , CM000674.1:g.52913426A>G GRCh37
NC_000012.10:g.51199693A>G NCBI36
NG_008297.1:g.5818T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.555+100T>C MANE Select ENSP00000252242.4:n.555+100T>C
ENST00000252242.8:c.555+100T>C ENSP00000252242.4:n.555+100T>C
ENST00000549420.1:c.225+100T>C ENSP00000447209.1:n.225+100T>C
ENST00000552629.5:n.653+100T>C
NM_000424.3:c.555+100T>C NP_000415.2:n.555+100T>C
NM_000424.4:c.555+100T>C MANE Select NP_000415.2:n.555+100T>C
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