Canonical Allele Identifier: CA217381
Gene: KRT16 HGNC NCBI

Linked Data

ClinVar Variation Id: 14606
ClinVar RCV Id: RCV000015710 RCV000057034
dbSNP Id: rs58293603
MyVariant Identifiers: chr17:g.39768570A>C (hg19) chr17:g.41612318A>C (hg38)
PubMed: PMID:10839714
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41612318A>C , CM000679.2:g.41612318A>C GRCh38
NC_000017.10:g.39768570A>C , CM000679.1:g.39768570A>C GRCh37
NC_000017.9:g.37022096A>C NCBI36
NG_008301.1:g.5510T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301653.9:c.371T>G MANE Select ENSP00000301653.3:p.Leu124Arg
ENST00000301653.8:c.371T>G ENSP00000301653.3:p.Leu124Arg
ENST00000588319.1:n.448T>G
ENST00000593067.1:c.-312-32T>G ENSP00000467124.1:n.-312-32T>G
NM_005557.3:c.371T>G NP_005548.2:p.Leu124Arg
NM_005557.4:c.371T>G MANE Select NP_005548.2:p.Leu124Arg
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