Canonical Allele Identifier: CA6582555
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs374535811
ExAC: 12:52910552 C / G
gnomAD v2: 12-52910552-C-G
gnomAD v3: 12-52516768-C-G
gnomAD v4: 12-52516768-C-G
MyVariant Identifiers: chr12:g.52910552C>G (hg19) chr12:g.52516768C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516768C>G , CM000674.2:g.52516768C>G GRCh38
NC_000012.11:g.52910552C>G , CM000674.1:g.52910552C>G GRCh37
NC_000012.10:g.51196819C>G NCBI36
NG_008297.1:g.8692G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1308G>C MANE Select ENSP00000252242.4:p.Glu436Asp
ENST00000252242.8:c.1308G>C ENSP00000252242.4:p.Glu436Asp
ENST00000547890.5:n.686G>C
ENST00000548409.5:c.430G>C
ENST00000549511.5:n.515G>C
ENST00000552629.5:n.1406G>C
NM_000424.3:c.1308G>C NP_000415.2:p.Glu436Asp
NM_000424.4:c.1308G>C MANE Select NP_000415.2:p.Glu436Asp
Search 100 bp 5'
Search 100 bp 3'