Canonical Allele Identifier: CA689831228
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs1279829371
gnomAD v3: 12-52516375-A-C
gnomAD v4: 12-52516375-A-C
MyVariant Identifiers: chr12:g.52910159A>C (hg19) chr12:g.52516375A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516375A>C , CM000674.2:g.52516375A>C GRCh38
NC_000012.11:g.52910159A>C , CM000674.1:g.52910159A>C GRCh37
NC_000012.10:g.51196426A>C NCBI36
NG_008297.1:g.9085T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1439+262T>G MANE Select ENSP00000252242.4:n.1439+262T>G
ENST00000252242.8:c.1439+262T>G ENSP00000252242.4:n.1439+262T>G
ENST00000548409.5:c.561+262T>G
ENST00000549511.5:n.646+262T>G
ENST00000552629.5:n.1799T>G
NM_000424.3:c.1439+262T>G NP_000415.2:n.1439+262T>G
NM_000424.4:c.1439+262T>G MANE Select NP_000415.2:n.1439+262T>G
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