Canonical Allele Identifier: CA216780

Gene: KRT5

Linked Data

• ClinVar Variation Id: 66277
• ClinVar RCV Id: RCV000056636 ; RCV000242288 ; RCV000272743 ; RCV002490636
• dbSNP Id: rs641621
• ExAC: 12:52912906 G / T
• gnomAD v2: 12-52912906-G-T
• gnomAD v3: 12-52519122-G-T
• gnomAD v4: 12-52519122-G-T
• MyVariant Identifiers: chr12:g.52912906G>T (hg19) ; chr12:g.52519122G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52519122G>T , CM000674.2:g.52519122G>T	GRCh38
NC_000012.11:g.52912906G>T , CM000674.1:g.52912906G>T	GRCh37
NC_000012.10:g.51199173G>T	NCBI36
NG_008297.1:g.6338C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252242.9:c.594C>A MANE Select	ENSP00000252242.4:p.Thr198=
ENST00000252242.8:c.594C>A	ENSP00000252242.4:p.Thr198=
ENST00000549420.1:c.264C>A	ENSP00000447209.1:p.Thr88=
ENST00000551013.1:n.122C>A
ENST00000552629.5:n.692C>A
NM_000424.3:c.594C>A	NP_000415.2:p.Thr198=
NM_000424.4:c.594C>A MANE Select	NP_000415.2:p.Thr198=