Canonical Allele Identifier: CA384924132
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs1401509310
gnomAD v2: 12-52910568-T-C
MyVariant Identifiers: chr12:g.52910568T>C (hg19) chr12:g.52516784T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516784T>C , CM000674.2:g.52516784T>C GRCh38
NC_000012.11:g.52910568T>C , CM000674.1:g.52910568T>C GRCh37
NC_000012.10:g.51196835T>C NCBI36
NG_008297.1:g.8676A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1292A>G MANE Select ENSP00000252242.4:p.Lys431Arg
ENST00000252242.8:c.1292A>G ENSP00000252242.4:p.Lys431Arg
ENST00000547890.5:n.670A>G
ENST00000548409.5:c.414A>G
ENST00000549511.5:n.499A>G
ENST00000552629.5:n.1390A>G
NM_000424.3:c.1292A>G NP_000415.2:p.Lys431Arg
NM_000424.4:c.1292A>G MANE Select NP_000415.2:p.Lys431Arg
Search 100 bp 5'
Search 100 bp 3'