Canonical Allele Identifier: CA384923528
Gene: KRT5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1047992
ClinVar RCV Id: RCV001352786 RCV003727989
dbSNP Id: rs1264710617
gnomAD v3: 12-52516670-G-C
gnomAD v4: 12-52516670-G-C
MyVariant Identifiers: chr12:g.52910454G>C (hg19) chr12:g.52516670G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516670G>C , CM000674.2:g.52516670G>C GRCh38
NC_000012.11:g.52910454G>C , CM000674.1:g.52910454G>C GRCh37
NC_000012.10:g.51196721G>C NCBI36
NG_008297.1:g.8790C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1406C>G MANE Select ENSP00000252242.4:p.Thr469Ser
ENST00000252242.8:c.1406C>G ENSP00000252242.4:p.Thr469Ser
ENST00000548409.5:c.528C>G
ENST00000549511.5:n.613C>G
ENST00000552629.5:n.1504C>G
NM_000424.3:c.1406C>G NP_000415.2:p.Thr469Ser
NM_000424.4:c.1406C>G MANE Select NP_000415.2:p.Thr469Ser
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