Canonical Allele Identifier: CA8563831
Gene: KRT17 HGNC NCBI

Linked Data

dbSNP Id: rs144844141
ExAC: 17:39780606 G / A
gnomAD v2: 17-39780606-G-A
gnomAD v3: 17-41624354-G-A
gnomAD v4: 17-41624354-G-A
MyVariant Identifiers: chr17:g.39780606G>A (hg19) chr17:g.41624354G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41624354G>A , CM000679.2:g.41624354G>A GRCh38
NC_000017.10:g.39780606G>A , CM000679.1:g.39780606G>A GRCh37
NC_000017.9:g.37034132G>A NCBI36
NG_008625.1:g.5277C>T
NG_009090.2:g.167359C>T , LRG_401:g.167359C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311208.13:c.156C>T MANE Select ENSP00000308452.8:p.Leu52=
ENST00000311208.12:c.156C>T ENSP00000308452.8:p.Leu52=
ENST00000463128.5:c.-312-148C>T ENSP00000468672.1:n.-312-148C>T
ENST00000491673.1:n.222C>T
ENST00000540235.5:c.-50C>T ENSP00000441751.2:n.-50C>T
ENST00000577817.3:c.111C>T ENSP00000467418.1:p.Leu37=
NM_000422.2:c.156C>T NP_000413.1:p.Leu52=
NM_000422.3:c.156C>T MANE Select NP_000413.1:p.Leu52=
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