Canonical Allele Identifier: CA6582396

Gene: KRT5

Linked Data

• ClinVar Variation Id: 309554
• ClinVar RCV Id: RCV000333840
• dbSNP Id: rs781707438
• ExAC: 12:52908763 G / T
• gnomAD v2: 12-52908763-G-T
• gnomAD v3: 12-52514979-G-T
• gnomAD v4: 12-52514979-G-T
• COSMIC: COSM1676986
• MyVariant Identifiers: chr12:g.52908763G>T (hg19) ; chr12:g.52514979G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52514979G>T , CM000674.2:g.52514979G>T	GRCh38
NC_000012.11:g.52908763G>T , CM000674.1:g.52908763G>T	GRCh37
NC_000012.10:g.51195030G>T	NCBI36
NG_008297.1:g.10481C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252242.9:c.1736C>A MANE Select	ENSP00000252242.4:p.Ser579Tyr
ENST00000252242.8:c.1736C>A	ENSP00000252242.4:p.Ser579Tyr
NM_000424.3:c.1736C>A	NP_000415.2:p.Ser579Tyr
NM_000424.4:c.1736C>A MANE Select	NP_000415.2:p.Ser579Tyr