Canonical Allele Identifier: CA384924160

Gene: KRT5

Linked Data

• MyVariant Identifiers: chr12:g.52910571T>G (hg19) ; chr12:g.52516787T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52516787T>G , CM000674.2:g.52516787T>G	GRCh38
NC_000012.11:g.52910571T>G , CM000674.1:g.52910571T>G	GRCh37
NC_000012.10:g.51196838T>G	NCBI36
NG_008297.1:g.8673A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252242.9:c.1289A>C MANE Select	ENSP00000252242.4:p.Asn430Thr
ENST00000252242.8:c.1289A>C	ENSP00000252242.4:p.Asn430Thr
ENST00000547890.5:n.667A>C
ENST00000548409.5:c.411A>C
ENST00000549511.5:n.496A>C
ENST00000552629.5:n.1387A>C
NM_000424.3:c.1289A>C	NP_000415.2:p.Asn430Thr
NM_000424.4:c.1289A>C MANE Select	NP_000415.2:p.Asn430Thr