Canonical Allele Identifier: CA216685

Gene: KRT5

Linked Data

• ClinVar Variation Id: 66223
• ClinVar RCV Id: RCV000056574 ; RCV000244641 ; RCV000344518
• dbSNP Id: rs11549950
• ExAC: 12:52908917 T / C
• gnomAD v2: 12-52908917-T-C
• gnomAD v3: 12-52515133-T-C
• gnomAD v4: 12-52515133-T-C
• MyVariant Identifiers: chr12:g.52908917T>C (hg19) ; chr12:g.52515133T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52515133T>C , CM000674.2:g.52515133T>C	GRCh38
NC_000012.11:g.52908917T>C , CM000674.1:g.52908917T>C	GRCh37
NC_000012.10:g.51195184T>C	NCBI36
NG_008297.1:g.10327A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252242.9:c.1582A>G MANE Select	ENSP00000252242.4:p.Ser528Gly
ENST00000252242.8:c.1582A>G	ENSP00000252242.4:p.Ser528Gly
ENST00000549511.5:n.789A>G
ENST00000552952.1:n.507A>G
NM_000424.3:c.1582A>G	NP_000415.2:p.Ser528Gly
NM_000424.4:c.1582A>G MANE Select	NP_000415.2:p.Ser528Gly