Canonical Allele Identifier: CA384923552
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs1131691471
gnomAD v2: 12-52910458-C-T
gnomAD v4: 12-52516674-C-T
MyVariant Identifiers: chr12:g.52910458C>T (hg19) chr12:g.52516674C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516674C>T , CM000674.2:g.52516674C>T GRCh38
NC_000012.11:g.52910458C>T , CM000674.1:g.52910458C>T GRCh37
NC_000012.10:g.51196725C>T NCBI36
NG_008297.1:g.8786G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1402G>A MANE Select ENSP00000252242.4:p.Ala468Thr
ENST00000252242.8:c.1402G>A ENSP00000252242.4:p.Ala468Thr
ENST00000548409.5:c.524G>A
ENST00000549511.5:n.609G>A
ENST00000552629.5:n.1500G>A
NM_000424.3:c.1402G>A NP_000415.2:p.Ala468Thr
NM_000424.4:c.1402G>A MANE Select NP_000415.2:p.Ala468Thr
Search 100 bp 5'
Search 100 bp 3'