Canonical Allele Identifier: CA124158
Gene: KRT16 HGNC NCBI

Linked Data

ClinVar Variation Id: 14602
ClinVar RCV Id: RCV000015706 RCV000057037 RCV000144080 RCV000763397
dbSNP Id: rs60723330
gnomAD v4: 17-41612315-T-C
MyVariant Identifiers: chr17:g.39768567T>C (hg19) chr17:g.41612315T>C (hg38)
PubMed: PMID:8595410 PMID:16250206
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41612315T>C , CM000679.2:g.41612315T>C GRCh38
NC_000017.10:g.39768567T>C , CM000679.1:g.39768567T>C GRCh37
NC_000017.9:g.37022093T>C NCBI36
NG_008301.1:g.5513A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000301653.9:c.374A>G MANE Select ENSP00000301653.3:p.Asn125Ser
ENST00000301653.8:c.374A>G ENSP00000301653.3:p.Asn125Ser
ENST00000588319.1:n.451A>G
ENST00000593067.1:c.-312-29A>G ENSP00000467124.1:n.-312-29A>G
NM_005557.3:c.374A>G NP_005548.2:p.Asn125Ser
NM_005557.4:c.374A>G MANE Select NP_005548.2:p.Asn125Ser
Search 100 bp 5'
Search 100 bp 3'