Canonical Allele Identifier: CA257295

Gene: KRT5

Linked Data

• ClinVar Variation Id: 14646
• ClinVar RCV Id: RCV001731296
• dbSNP Id: rs121912474
• MyVariant Identifiers: chr12:g.52914061A>G (hg19) ; chr12:g.52520277A>G (hg38)
• PubMed: PMID:9740251

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52520277A>G , CM000674.2:g.52520277A>G	GRCh38
NC_000012.11:g.52914061A>G , CM000674.1:g.52914061A>G	GRCh37
NC_000012.10:g.51200328A>G	NCBI36
NG_008297.1:g.5183T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252242.9:c.20T>C MANE Select	ENSP00000252242.4:p.Val7Ala
ENST00000252242.8:c.20T>C	ENSP00000252242.4:p.Val7Ala
ENST00000546577.1:c.20T>C	ENSP00000449651.1:p.Val7Ala
ENST00000549420.1:c.20T>C	ENSP00000447209.1:p.Val7Ala
ENST00000551275.1:c.20T>C	ENSP00000448041.1:p.Val7Ala
ENST00000552629.5:n.118T>C
NM_000424.3:c.20T>C	NP_000415.2:p.Val7Ala
NM_000424.4:c.20T>C MANE Select	NP_000415.2:p.Val7Ala