Canonical Allele Identifier: CA124157
Gene: KRT16 HGNC NCBI

Linked Data

ClinVar Variation Id: 14601
ClinVar RCV Id: RCV000015705 RCV000057038 RCV000578284 RCV002496375 RCV003415709
dbSNP Id: rs59856285
gnomAD v3: 17-41612310-G-A
gnomAD v4: 17-41612310-G-A
MyVariant Identifiers: chr17:g.39768562G>A (hg19) chr17:g.41612310G>A (hg38)
PubMed: PMID:8595410 PMID:16250206
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41612310G>A , CM000679.2:g.41612310G>A GRCh38
NC_000017.10:g.39768562G>A , CM000679.1:g.39768562G>A GRCh37
NC_000017.9:g.37022088G>A NCBI36
NG_008301.1:g.5518C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301653.9:c.379C>T MANE Select ENSP00000301653.3:p.Arg127Cys
ENST00000301653.8:c.379C>T ENSP00000301653.3:p.Arg127Cys
ENST00000588319.1:n.456C>T
ENST00000593067.1:c.-312-24C>T ENSP00000467124.1:n.-312-24C>T
NM_005557.3:c.379C>T NP_005548.2:p.Arg127Cys
NM_005557.4:c.379C>T MANE Select NP_005548.2:p.Arg127Cys
Search 100 bp 5'
Search 100 bp 3'