Canonical Allele Identifier: CA124157

Gene: KRT16

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

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