Canonical Allele Identifier: CA6582539
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs531299414
ExAC: 12:52910468 G / A
gnomAD v2: 12-52910468-G-A
gnomAD v3: 12-52516684-G-A
gnomAD v4: 12-52516684-G-A
COSMIC: COSM2010748
MyVariant Identifiers: chr12:g.52910468G>A (hg19) chr12:g.52516684G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516684G>A , CM000674.2:g.52516684G>A GRCh38
NC_000012.11:g.52910468G>A , CM000674.1:g.52910468G>A GRCh37
NC_000012.10:g.51196735G>A NCBI36
NG_008297.1:g.8776C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1392C>T MANE Select ENSP00000252242.4:p.Asp464=
ENST00000252242.8:c.1392C>T ENSP00000252242.4:p.Asp464=
ENST00000548409.5:c.514C>T
ENST00000549511.5:n.599C>T
ENST00000552629.5:n.1490C>T
NM_000424.3:c.1392C>T NP_000415.2:p.Asp464=
NM_000424.4:c.1392C>T MANE Select NP_000415.2:p.Asp464=
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