Canonical Allele Identifier: CA480069767
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs2120475854
MyVariant Identifiers: chr12:g.52910566G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516782G>A , CM000674.2:g.52516782G>A GRCh38
NC_000012.11:g.52910566G>A , CM000674.1:g.52910566G>A GRCh37
NC_000012.10:g.51196833G>A NCBI36
NG_008297.1:g.8678C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1294C>T MANE Select ENSP00000252242.4:p.Leu432=
ENST00000252242.8:c.1294C>T ENSP00000252242.4:p.Leu432=
ENST00000547890.5:n.672C>T
ENST00000548409.5:c.416C>T
ENST00000549511.5:n.501C>T
ENST00000552629.5:n.1392C>T
NM_000424.3:c.1294C>T NP_000415.2:p.Leu432=
NM_000424.4:c.1294C>T MANE Select NP_000415.2:p.Leu432=
Search 100 bp 5'
Search 100 bp 3'