Canonical Allele Identifier: CA689831231
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs1279829371
gnomAD v3: 12-52516375-A-T
gnomAD v4: 12-52516375-A-T
MyVariant Identifiers: chr12:g.52910159A>T (hg19) chr12:g.52516375A>T (hg38)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1439+262T>A MANE Select ENSP00000252242.4:n.1439+262T>A
ENST00000252242.8:c.1439+262T>A ENSP00000252242.4:n.1439+262T>A
ENST00000548409.5:c.561+262T>A
ENST00000549511.5:n.646+262T>A
ENST00000552629.5:n.1799T>A
NM_000424.3:c.1439+262T>A NP_000415.2:n.1439+262T>A
NM_000424.4:c.1439+262T>A MANE Select NP_000415.2:n.1439+262T>A
Search 100 bp 5'
Search 100 bp 3'