Canonical Allele Identifier: CA216815

Gene: KRT5

Linked Data

• ClinVar Variation Id: 66298
• ClinVar RCV Id: RCV000056660 ; RCV000503703 ; RCV003333731
• dbSNP Id: rs61297109
• gnomAD v2: 12-52911475-G-A
• gnomAD v4: 12-52517691-G-A
• MyVariant Identifiers: chr12:g.52911475G>A (hg19) ; chr12:g.52517691G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52517691G>A , CM000674.2:g.52517691G>A	GRCh38
NC_000012.11:g.52911475G>A , CM000674.1:g.52911475G>A	GRCh37
NC_000012.10:g.51197742G>A	NCBI36
NG_008297.1:g.7769C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252242.9:c.991C>T MANE Select	ENSP00000252242.4:p.Arg331Cys
ENST00000252242.8:c.991C>T	ENSP00000252242.4:p.Arg331Cys
ENST00000547890.5:n.120C>T
ENST00000548409.5:c.113C>T
ENST00000549511.5:n.198C>T
ENST00000551013.1:n.629C>T
ENST00000551188.5:c.434C>T
ENST00000552629.5:n.1089C>T
NM_000424.3:c.991C>T	NP_000415.2:p.Arg331Cys
NM_000424.4:c.991C>T MANE Select	NP_000415.2:p.Arg331Cys