Canonical Allele Identifier: CA237226465

Gene: KRT5

Linked Data

• dbSNP Id: rs1049374649
• gnomAD v2: 12-52910360-A-G
• gnomAD v3: 12-52516576-A-G
• gnomAD v4: 12-52516576-A-G
• MyVariant Identifiers: chr12:g.52910360A>G (hg19) ; chr12:g.52516576A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52516576A>G , CM000674.2:g.52516576A>G	GRCh38
NC_000012.11:g.52910360A>G , CM000674.1:g.52910360A>G	GRCh37
NC_000012.10:g.51196627A>G	NCBI36
NG_008297.1:g.8884T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252242.9:c.1439+61T>C MANE Select	ENSP00000252242.4:n.1439+61T>C
ENST00000252242.8:c.1439+61T>C	ENSP00000252242.4:n.1439+61T>C
ENST00000548409.5:c.561+61T>C
ENST00000549511.5:n.646+61T>C
ENST00000552629.5:n.1598T>C
NM_000424.3:c.1439+61T>C	NP_000415.2:n.1439+61T>C
NM_000424.4:c.1439+61T>C MANE Select	NP_000415.2:n.1439+61T>C