Canonical Allele Identifier: CA6582542
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs771368861
ExAC: 12:52910483 G / C
gnomAD v2: 12-52910483-G-C
gnomAD v4: 12-52516699-G-C
MyVariant Identifiers: chr12:g.52910483G>C (hg19) chr12:g.52516699G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516699G>C , CM000674.2:g.52516699G>C GRCh38
NC_000012.11:g.52910483G>C , CM000674.1:g.52910483G>C GRCh37
NC_000012.10:g.51196750G>C NCBI36
NG_008297.1:g.8761C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1377C>G MANE Select ENSP00000252242.4:p.Thr459=
ENST00000252242.8:c.1377C>G ENSP00000252242.4:p.Thr459=
ENST00000547890.5:n.755C>G
ENST00000548409.5:c.499C>G
ENST00000549511.5:n.584C>G
ENST00000552629.5:n.1475C>G
NM_000424.3:c.1377C>G NP_000415.2:p.Thr459=
NM_000424.4:c.1377C>G MANE Select NP_000415.2:p.Thr459=
Search 100 bp 5'
Search 100 bp 3'