Canonical Allele Identifier: CA16606334
Gene: KRT5 HGNC NCBI

Linked Data

ClinVar Variation Id: 379242
ClinVar RCV Id: RCV000435783
dbSNP Id: rs763608512
MyVariant Identifiers: chr12:g.52913609C>A (hg19) chr12:g.52519825C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519825C>A , CM000674.2:g.52519825C>A GRCh38
NC_000012.11:g.52913609C>A , CM000674.1:g.52913609C>A GRCh37
NC_000012.10:g.51199876C>A NCBI36
NG_008297.1:g.5635G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.472G>T MANE Select ENSP00000252242.4:p.Asp158Tyr
ENST00000252242.8:c.472G>T ENSP00000252242.4:p.Asp158Tyr
ENST00000549420.1:c.142G>T ENSP00000447209.1:p.Asp48Tyr
ENST00000551275.1:c.367G>T ENSP00000448041.1:p.Asp123Tyr
ENST00000552629.5:n.570G>T
NM_000424.3:c.472G>T NP_000415.2:p.Asp158Tyr
NM_000424.4:c.472G>T MANE Select NP_000415.2:p.Asp158Tyr
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