Canonical Allele Identifier: CA6582821

Gene: KRT5

Linked Data

• dbSNP Id: rs777006944
• ExAC: 12:52913514 A / G
• gnomAD v2: 12-52913514-A-G
• gnomAD v4: 12-52519730-A-G
• MyVariant Identifiers: chr12:g.52913514A>G (hg19) ; chr12:g.52519730A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52519730A>G , CM000674.2:g.52519730A>G	GRCh38
NC_000012.11:g.52913514A>G , CM000674.1:g.52913514A>G	GRCh37
NC_000012.10:g.51199781A>G	NCBI36
NG_008297.1:g.5730T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252242.9:c.555+12T>C MANE Select	ENSP00000252242.4:n.555+12T>C
ENST00000252242.8:c.555+12T>C	ENSP00000252242.4:n.555+12T>C
ENST00000549420.1:c.225+12T>C	ENSP00000447209.1:n.225+12T>C
ENST00000552629.5:n.653+12T>C
NM_000424.3:c.555+12T>C	NP_000415.2:n.555+12T>C
NM_000424.4:c.555+12T>C MANE Select	NP_000415.2:n.555+12T>C