Canonical Allele Identifier: CA399496325
Gene: KRT16 HGNC NCBI

Linked Data

dbSNP Id: rs1188136093
gnomAD v2: 17-39768798-C-T
gnomAD v4: 17-41612546-C-T
MyVariant Identifiers: chr17:g.39768798C>T (hg19) chr17:g.41612546C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41612546C>T , CM000679.2:g.41612546C>T GRCh38
NC_000017.10:g.39768798C>T , CM000679.1:g.39768798C>T GRCh37
NC_000017.9:g.37022324C>T NCBI36
NG_008301.1:g.5282G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301653.9:c.143G>A MANE Select ENSP00000301653.3:p.Gly48Asp
ENST00000301653.8:c.143G>A ENSP00000301653.3:p.Gly48Asp
ENST00000588319.1:n.220G>A
ENST00000590990.1:c.143G>A ENSP00000467105.1:p.Gly48Asp
ENST00000593067.1:c.-313+244G>A ENSP00000467124.1:n.-313+244G>A
NM_005557.3:c.143G>A NP_005548.2:p.Gly48Asp
NM_005557.4:c.143G>A MANE Select NP_005548.2:p.Gly48Asp
Search 100 bp 5'
Search 100 bp 3'