Canonical Allele Identifier: CA290678194
Gene: KRT16 HGNC NCBI

Linked Data

dbSNP Id: rs944892887
gnomAD v4: 17-41612598-T-G
MyVariant Identifiers: chr17:g.39768850T>G (hg19) chr17:g.41612598T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41612598T>G , CM000679.2:g.41612598T>G GRCh38
NC_000017.10:g.39768850T>G , CM000679.1:g.39768850T>G GRCh37
NC_000017.9:g.37022376T>G NCBI36
NG_008301.1:g.5230A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301653.9:c.91A>C MANE Select ENSP00000301653.3:p.Ile31Leu
ENST00000301653.8:c.91A>C ENSP00000301653.3:p.Ile31Leu
ENST00000588319.1:n.168A>C
ENST00000590990.1:c.91A>C ENSP00000467105.1:p.Ile31Leu
ENST00000593067.1:c.-313+192A>C ENSP00000467124.1:n.-313+192A>C
NM_005557.3:c.91A>C NP_005548.2:p.Ile31Leu
NM_005557.4:c.91A>C MANE Select NP_005548.2:p.Ile31Leu
Search 100 bp 5'
Search 100 bp 3'