Canonical Allele Identifier: CA10633190
Gene: KRT5 HGNC NCBI

Linked Data

ClinVar Variation Id: 309553
ClinVar RCV Id: RCV000292802
dbSNP Id: rs886049624
gnomAD v2: 12-52908667-G-A
gnomAD v3: 12-52514883-G-A
gnomAD v4: 12-52514883-G-A
MyVariant Identifiers: chr12:g.52908667G>A (hg19) chr12:g.52514883G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52514883G>A , CM000674.2:g.52514883G>A GRCh38
NC_000012.11:g.52908667G>A , CM000674.1:g.52908667G>A GRCh37
NC_000012.10:g.51194934G>A NCBI36
NG_008297.1:g.10577C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.*59C>T MANE Select ENSP00000252242.4:n.*59C>T
ENST00000252242.8:c.*59C>T ENSP00000252242.4:n.*59C>T
NM_000424.3:c.*59C>T NP_000415.2:n.*59C>T
NM_000424.4:c.*59C>T MANE Select NP_000415.2:n.*59C>T
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Search 100 bp 3'