Canonical Allele Identifier: CA384931215
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs1463762295
MyVariant Identifiers: chr12:g.52914014T>G (hg19) chr12:g.52520230T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52520230T>G , CM000674.2:g.52520230T>G GRCh38
NC_000012.11:g.52914014T>G , CM000674.1:g.52914014T>G GRCh37
NC_000012.10:g.51200281T>G NCBI36
NG_008297.1:g.5230A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.67A>C MANE Select ENSP00000252242.4:p.Ile23Leu
ENST00000252242.8:c.67A>C ENSP00000252242.4:p.Ile23Leu
ENST00000546577.1:c.67A>C ENSP00000449651.1:p.Ile23Leu
ENST00000549420.1:c.43+24A>C ENSP00000447209.1:n.43+24A>C
ENST00000551275.1:c.67A>C ENSP00000448041.1:p.Ile23Leu
ENST00000552629.5:n.165A>C
NM_000424.3:c.67A>C NP_000415.2:p.Ile23Leu
NM_000424.4:c.67A>C MANE Select NP_000415.2:p.Ile23Leu
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