Canonical Allele Identifier: CA6582479

Gene: KRT5

Linked Data

• ClinVar Variation Id: 309559
• ClinVar RCV Id: RCV000913330 ; RCV000403399
• dbSNP Id: rs142320369
• ExAC: 12:52909030 G / A
• gnomAD v2: 12-52909030-G-A
• gnomAD v3: 12-52515246-G-A
• gnomAD v4: 12-52515246-G-A
• MyVariant Identifiers: chr12:g.52909030G>A (hg19) ; chr12:g.52515246G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52515246G>A , CM000674.2:g.52515246G>A	GRCh38
NC_000012.11:g.52909030G>A , CM000674.1:g.52909030G>A	GRCh37
NC_000012.10:g.51195297G>A	NCBI36
NG_008297.1:g.10214C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252242.9:c.1475-6C>T MANE Select	ENSP00000252242.4:n.1475-6C>T
ENST00000252242.8:c.1475-6C>T	ENSP00000252242.4:n.1475-6C>T
ENST00000549511.5:n.682-6C>T
ENST00000552952.1:n.400-6C>T
NM_000424.3:c.1475-6C>T	NP_000415.2:n.1475-6C>T
NM_000424.4:c.1475-6C>T MANE Select	NP_000415.2:n.1475-6C>T