Canonical Allele Identifier: CA217378
Gene: KRT16 HGNC NCBI

Linked Data

ClinVar Variation Id: 14605
ClinVar RCV Id: RCV000015709 RCV000057031
dbSNP Id: rs59349773
MyVariant Identifiers: chr17:g.39768576T>G (hg19) chr17:g.41612324T>G (hg38)
PubMed: PMID:10606845
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41612324T>G , CM000679.2:g.41612324T>G GRCh38
NC_000017.10:g.39768576T>G , CM000679.1:g.39768576T>G GRCh37
NC_000017.9:g.37022102T>G NCBI36
NG_008301.1:g.5504A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000301653.9:c.365A>C MANE Select ENSP00000301653.3:p.Gln122Pro
ENST00000301653.8:c.365A>C ENSP00000301653.3:p.Gln122Pro
ENST00000588319.1:n.442A>C
ENST00000593067.1:c.-312-38A>C ENSP00000467124.1:n.-312-38A>C
NM_005557.3:c.365A>C NP_005548.2:p.Gln122Pro
NM_005557.4:c.365A>C MANE Select NP_005548.2:p.Gln122Pro
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