Canonical Allele Identifier: CA384923500
Gene: KRT5 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.52516665G>T
GRCh37 chr12:g.52910449G>T
Revel Score:
ENST00000548409 0.391
ENST00000252242 (MANE Select) 0.754
ENST00000456000 0.754
gnomAD v2:
12:52910449 G / T
gnomAD v3:
12:52516665 G / T
gnomAD v4:
chr12-52516665-G-T
Joint Max Group AF 0.00000183 (NFE)
Exomes Max Group AF 0.00000132 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516665G>T , CM000674.2:g.52516665G>T GRCh38
NC_000012.11:g.52910449G>T , CM000674.1:g.52910449G>T GRCh37
NC_000012.10:g.51196716G>T NCBI36
NG_008297.1:g.8795C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1411C>A MANE Select ENSP00000252242.4:p.Arg471Ser
ENST00000252242.8:c.1411C>A ENSP00000252242.4:p.Arg471Ser
ENST00000548409.5:c.533C>A
ENST00000549511.5:n.618C>A
ENST00000552629.5:n.1509C>A
NM_000424.3:c.1411C>A NP_000415.2:p.Arg471Ser
NM_000424.4:c.1411C>A MANE Select NP_000415.2:p.Arg471Ser
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