Canonical Allele Identifier: CA399494871
Gene: KRT16 HGNC NCBI

Linked Data

dbSNP Id: rs1337503417
gnomAD v2: 17-39768577-G-T
gnomAD v4: 17-41612325-G-T
MyVariant Identifiers: chr17:g.39768577G>T (hg19) chr17:g.41612325G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41612325G>T , CM000679.2:g.41612325G>T GRCh38
NC_000017.10:g.39768577G>T , CM000679.1:g.39768577G>T GRCh37
NC_000017.9:g.37022103G>T NCBI36
NG_008301.1:g.5503C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000301653.9:c.364C>A MANE Select ENSP00000301653.3:p.Gln122Lys
ENST00000301653.8:c.364C>A ENSP00000301653.3:p.Gln122Lys
ENST00000588319.1:n.441C>A
ENST00000593067.1:c.-312-39C>A ENSP00000467124.1:n.-312-39C>A
NM_005557.3:c.364C>A NP_005548.2:p.Gln122Lys
NM_005557.4:c.364C>A MANE Select NP_005548.2:p.Gln122Lys
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