Canonical Allele Identifier: CA384929074
Gene: KRT5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.52913609C>G (hg19) chr12:g.52519825C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519825C>G , CM000674.2:g.52519825C>G GRCh38
NC_000012.11:g.52913609C>G , CM000674.1:g.52913609C>G GRCh37
NC_000012.10:g.51199876C>G NCBI36
NG_008297.1:g.5635G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.472G>C MANE Select ENSP00000252242.4:p.Asp158His
ENST00000252242.8:c.472G>C ENSP00000252242.4:p.Asp158His
ENST00000549420.1:c.142G>C ENSP00000447209.1:p.Asp48His
ENST00000551275.1:c.367G>C ENSP00000448041.1:p.Asp123His
ENST00000552629.5:n.570G>C
NM_000424.3:c.472G>C NP_000415.2:p.Asp158His
NM_000424.4:c.472G>C MANE Select NP_000415.2:p.Asp158His
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