Canonical Allele Identifier: CA384931385

Gene: KRT5

Linked Data

• gnomAD v4: 12-52520256-C-T
• MyVariant Identifiers: chr12:g.52914040C>T (hg19) ; chr12:g.52520256C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52520256C>T , CM000674.2:g.52520256C>T	GRCh38
NC_000012.11:g.52914040C>T , CM000674.1:g.52914040C>T	GRCh37
NC_000012.10:g.51200307C>T	NCBI36
NG_008297.1:g.5204G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252242.9:c.41G>A MANE Select	ENSP00000252242.4:p.Ser14Asn
ENST00000252242.8:c.41G>A	ENSP00000252242.4:p.Ser14Asn
ENST00000546577.1:c.41G>A	ENSP00000449651.1:p.Ser14Asn
ENST00000549420.1:c.41G>A	ENSP00000447209.1:p.Ser14Asn
ENST00000551275.1:c.41G>A	ENSP00000448041.1:p.Ser14Asn
ENST00000552629.5:n.139G>A
NM_000424.3:c.41G>A	NP_000415.2:p.Ser14Asn
NM_000424.4:c.41G>A MANE Select	NP_000415.2:p.Ser14Asn