Canonical Allele Identifier: CA8563333
Gene: KRT16 HGNC NCBI

Linked Data

dbSNP Id: rs1284026155
ExAC: 17:39768785 G / A
gnomAD v2: 17-39768785-G-A
gnomAD v4: 17-41612533-G-A
MyVariant Identifiers: chr17:g.39768785G>A (hg19) chr17:g.39768785_39768787delinsAAC (hg19) chr17:g.41612533G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41612533G>A , CM000679.2:g.41612533G>A GRCh38
NC_000017.10:g.39768785G>A , CM000679.1:g.39768785G>A GRCh37
NC_000017.9:g.37022311G>A NCBI36
NG_008301.1:g.5295C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301653.9:c.156C>T MANE Select ENSP00000301653.3:p.Val52=
ENST00000301653.8:c.156C>T ENSP00000301653.3:p.Val52=
ENST00000588319.1:n.233C>T
ENST00000593067.1:c.-312-247C>T ENSP00000467124.1:n.-312-247C>T
NM_005557.3:c.156C>T NP_005548.2:p.Val52=
NM_005557.4:c.156C>T MANE Select NP_005548.2:p.Val52=
Search 100 bp 5'
Search 100 bp 3'