Canonical Allele Identifier: CA124153
Gene: KRT17 HGNC NCBI

Linked Data

ClinVar Variation Id: 14589
dbSNP Id: rs28928896

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41624236T>G , CM000679.2:g.41624236T>G GRCh38
NC_000017.10:g.39780488T>G , CM000679.1:g.39780488T>G GRCh37
NC_000017.9:g.37034014T>G NCBI36
NG_008625.1:g.5395A>C
NG_009090.2:g.167477A>C , LRG_401:g.167477A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311208.13:c.274A>C MANE Select ENSP00000308452.8:p.Asn92His
ENST00000311208.12:c.274A>C ENSP00000308452.8:p.Asn92His
ENST00000463128.5:c.-312-30A>C ENSP00000468672.1:n.-312-30A>C
ENST00000491673.1:n.340A>C
ENST00000493253.5:n.61A>C
ENST00000540235.5:c.69A>C ENSP00000441751.2:p.Ser23=
ENST00000577817.3:c.229A>C ENSP00000467418.1:p.Asn77His
NM_000422.2:c.274A>C NP_000413.1:p.Asn92His
NM_000422.3:c.274A>C MANE Select NP_000413.1:p.Asn92His