Canonical Allele Identifier: CA384923371
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs1938614464
gnomAD v3: 12-52516641-A-T
gnomAD v4: 12-52516641-A-T
MyVariant Identifiers: chr12:g.52910425A>T (hg19) chr12:g.52516641A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516641A>T , CM000674.2:g.52516641A>T GRCh38
NC_000012.11:g.52910425A>T , CM000674.1:g.52910425A>T GRCh37
NC_000012.10:g.51196692A>T NCBI36
NG_008297.1:g.8819T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1435T>A MANE Select ENSP00000252242.4:p.Cys479Ser
ENST00000252242.8:c.1435T>A ENSP00000252242.4:p.Cys479Ser
ENST00000548409.5:c.557T>A
ENST00000549511.5:n.642T>A
ENST00000552629.5:n.1533T>A
NM_000424.3:c.1435T>A NP_000415.2:p.Cys479Ser
NM_000424.4:c.1435T>A MANE Select NP_000415.2:p.Cys479Ser
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