Canonical Allele Identifier: CA216731

Gene: KRT5

Linked Data

• ClinVar Variation Id: 14657
• ClinVar RCV Id: RCV000056603 ; RCV001352723 ; RCV001731300 ; RCV003894807
• dbSNP Id: rs59115483
• ExAC: 12:52913573 C / T
• gnomAD v2: 12-52913573-C-T
• gnomAD v3: 12-52519789-C-T
• gnomAD v4: 12-52519789-C-T
• MyVariant Identifiers: chr12:g.52913573C>T (hg19) ; chr12:g.52519789C>T (hg38)
• PubMed: PMID:11973334

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52519789C>T , CM000674.2:g.52519789C>T	GRCh38
NC_000012.11:g.52913573C>T , CM000674.1:g.52913573C>T	GRCh37
NC_000012.10:g.51199840C>T	NCBI36
NG_008297.1:g.5671G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252242.9:c.508G>A MANE Select	ENSP00000252242.4:p.Glu170Lys
ENST00000252242.8:c.508G>A	ENSP00000252242.4:p.Glu170Lys
ENST00000549420.1:c.178G>A	ENSP00000447209.1:p.Glu60Lys
ENST00000551275.1:c.403G>A	ENSP00000448041.1:p.Glu135Lys
ENST00000552629.5:n.606G>A
NM_000424.3:c.508G>A	NP_000415.2:p.Glu170Lys
NM_000424.4:c.508G>A MANE Select	NP_000415.2:p.Glu170Lys