Canonical Allele Identifier: CA384929649
Gene: KRT5 HGNC NCBI

Linked Data

gnomAD v4: 12-52519936-C-G
MyVariant Identifiers: chr12:g.52913720C>G (hg19) chr12:g.52519936C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519936C>G , CM000674.2:g.52519936C>G GRCh38
NC_000012.11:g.52913720C>G , CM000674.1:g.52913720C>G GRCh37
NC_000012.10:g.51199987C>G NCBI36
NG_008297.1:g.5524G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.361G>C MANE Select ENSP00000252242.4:p.Ala121Pro
ENST00000252242.8:c.361G>C ENSP00000252242.4:p.Ala121Pro
ENST00000546577.1:c.361G>C ENSP00000449651.1:p.Ala121Pro
ENST00000549420.1:c.44-13G>C ENSP00000447209.1:n.44-13G>C
ENST00000551275.1:c.256G>C ENSP00000448041.1:p.Ala86Pro
ENST00000552629.5:n.459G>C
NM_000424.3:c.361G>C NP_000415.2:p.Ala121Pro
NM_000424.4:c.361G>C MANE Select NP_000415.2:p.Ala121Pro
Search 100 bp 5'
Search 100 bp 3'