Canonical Allele Identifier: CA257295
Gene: KRT5 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.52520277A>G
GRCh37 chr12:g.52914061A>G
Revel Score:
ENST00000252242 (MANE Select) 0.061
ENST00000456000 0.061
ENST00000549420 0.061
ENST00000551275 0.061
ENST00000546577 0.061
ClinVar RCV:
RCV001731296
ClinVar Variation:
14646
dbSNP:
121912474
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'