Canonical Allele Identifier: CA384923332

Gene: KRT5

Linked Data

• gnomAD v4: 12-52516635-A-G
• MyVariant Identifiers: chr12:g.52910419A>G (hg19) ; chr12:g.52516635A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52516635A>G , CM000674.2:g.52516635A>G	GRCh38
NC_000012.11:g.52910419A>G , CM000674.1:g.52910419A>G	GRCh37
NC_000012.10:g.51196686A>G	NCBI36
NG_008297.1:g.8825T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252242.9:c.1439+2T>C MANE Select	ENSP00000252242.4:n.1439+2T>C
ENST00000252242.8:c.1439+2T>C	ENSP00000252242.4:n.1439+2T>C
ENST00000548409.5:c.561+2T>C
ENST00000549511.5:n.646+2T>C
ENST00000552629.5:n.1539T>C
NM_000424.3:c.1439+2T>C	NP_000415.2:n.1439+2T>C
NM_000424.4:c.1439+2T>C MANE Select	NP_000415.2:n.1439+2T>C