Canonical Allele Identifier: CA6582947
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs372305341
ExAC: 12:52914037 C / T
gnomAD v2: 12-52914037-C-T
gnomAD v3: 12-52520253-C-T
gnomAD v4: 12-52520253-C-T
MyVariant Identifiers: chr12:g.52914037C>T (hg19) chr12:g.52520253C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52520253C>T , CM000674.2:g.52520253C>T GRCh38
NC_000012.11:g.52914037C>T , CM000674.1:g.52914037C>T GRCh37
NC_000012.10:g.51200304C>T NCBI36
NG_008297.1:g.5207G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.44G>A MANE Select ENSP00000252242.4:p.Arg15His
ENST00000252242.8:c.44G>A ENSP00000252242.4:p.Arg15His
ENST00000546577.1:c.44G>A ENSP00000449651.1:p.Arg15His
ENST00000549420.1:c.43+1G>A ENSP00000447209.1:n.43+1G>A
ENST00000551275.1:c.44G>A ENSP00000448041.1:p.Arg15His
ENST00000552629.5:n.142G>A
NM_000424.3:c.44G>A NP_000415.2:p.Arg15His
NM_000424.4:c.44G>A MANE Select NP_000415.2:p.Arg15His
Search 100 bp 5'
Search 100 bp 3'