Canonical Allele Identifier: CA384931005

Gene: KRT5

Linked Data

• dbSNP Id: rs1366922155
• gnomAD v2: 12-52913983-G-T
• gnomAD v4: 12-52520199-G-T
• MyVariant Identifiers: chr12:g.52913983G>T (hg19) ; chr12:g.52520199G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52520199G>T , CM000674.2:g.52520199G>T	GRCh38
NC_000012.11:g.52913983G>T , CM000674.1:g.52913983G>T	GRCh37
NC_000012.10:g.51200250G>T	NCBI36
NG_008297.1:g.5261C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252242.9:c.98C>A MANE Select	ENSP00000252242.4:p.Thr33Asn
ENST00000252242.8:c.98C>A	ENSP00000252242.4:p.Thr33Asn
ENST00000546577.1:c.98C>A	ENSP00000449651.1:p.Thr33Asn
ENST00000549420.1:c.43+55C>A	ENSP00000447209.1:n.43+55C>A
ENST00000551275.1:c.98C>A	ENSP00000448041.1:p.Thr33Asn
ENST00000552629.5:n.196C>A
NM_000424.3:c.98C>A	NP_000415.2:p.Thr33Asn
NM_000424.4:c.98C>A MANE Select	NP_000415.2:p.Thr33Asn