Canonical Allele Identifier: CA605071427
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs1364868550
gnomAD v2: 12-52914093-C-T
gnomAD v4: 12-52520309-C-T
MyVariant Identifiers: chr12:g.52914093C>T (hg19) chr12:g.52520309C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52520309C>T , CM000674.2:g.52520309C>T GRCh38
NC_000012.11:g.52914093C>T , CM000674.1:g.52914093C>T GRCh37
NC_000012.10:g.51200360C>T NCBI36
NG_008297.1:g.5151G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252242.9:c.-13G>A MANE Select ENSP00000252242.4:n.-13G>A
ENST00000252242.8:c.-13G>A ENSP00000252242.4:n.-13G>A
ENST00000546577.1:c.-12-1G>A ENSP00000449651.1:n.-12-1G>A
ENST00000549420.1:c.-13G>A ENSP00000447209.1:n.-13G>A
ENST00000551275.1:c.-13G>A ENSP00000448041.1:n.-13G>A
ENST00000552629.5:n.86G>A
NM_000424.3:c.-13G>A NP_000415.2:n.-13G>A
NM_000424.4:c.-13G>A MANE Select NP_000415.2:n.-13G>A
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