Canonical Allele Identifier: CA216520
Gene: KRT12 HGNC NCBI

Linked Data

ClinVar Variation Id: 66129
ClinVar RCV Id: RCV000056429
dbSNP Id: rs200258980
MyVariant Identifiers: chr17:g.39023384G>A (hg19) chr17:g.40867132G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40867132G>A , CM000679.2:g.40867132G>A GRCh38
NC_000017.10:g.39023384G>A , CM000679.1:g.39023384G>A GRCh37
NC_000017.9:g.36276910G>A NCBI36
NG_008077.1:g.5079C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251643.5:c.55C>T MANE Select ENSP00000251643.4:p.Arg19Trp
ENST00000647902.1:c.55C>T ENSP00000497770.1:p.Arg19Trp
ENST00000251643.4:c.55C>T ENSP00000251643.4:p.Arg19Trp
NM_000223.3:c.55C>T NP_000214.1:p.Arg19Trp
XR_934754.1:n.1500+16272G>A
XR_934754.2:n.2008+16272G>A
NM_000223.4:c.55C>T MANE Select NP_000214.1:p.Arg19Trp
Search 100 bp 5'
Search 100 bp 3'