Canonical Allele Identifier: CA10421022
Gene: HSD17B10 HGNC NCBI

Linked Data

ClinVar Variation Id: 435470
ClinVar RCV Id: RCV000504036 RCV000766098 RCV001857111
dbSNP Id: rs371014686
ExAC: X:53459293 C / T
gnomAD v2: X-53459293-C-T
gnomAD v3: X-53432345-C-T
gnomAD v4: X-53432345-C-T
MyVariant Identifiers: chrX:g.53459293C>T (hg19) chrX:g.53432345C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53432345C>T , CM000685.2:g.53432345C>T GRCh38
NC_000023.10:g.53459293C>T , CM000685.1:g.53459293C>T GRCh37
NC_000023.9:g.53476018C>T NCBI36
NG_008153.1:g.7031G>A , LRG_450:g.7031G>A
NG_033076.2:g.14491C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000495986.2:n.403G>A
ENST00000682365.1:n.1594G>A
ENST00000684251.1:n.103G>A
ENST00000684503.1:n.424G>A
ENST00000684692.1:c.259G>A ENSP00000506792.1:p.Val87Ile
ENST00000168216.11:c.259G>A MANE Select ENSP00000168216.6:p.Val87Ile
ENST00000168216.10:c.259G>A ENSP00000168216.6:p.Val87Ile
ENST00000375298.4:c.259G>A ENSP00000364447.4:p.Val87Ile
ENST00000375304.9:c.259G>A ENSP00000364453.5:p.Val87Ile
ENST00000495986.1:n.391G>A
NM_001037811.2:c.259G>A , LRG_450t2:c.259G>A NP_001032900.1:p.Val87Ile
NM_004493.2:c.259G>A , LRG_450t1:c.259G>A NP_004484.1:p.Val87Ile
NM_004493.3:c.259G>A MANE Select NP_004484.1:p.Val87Ile
Search 100 bp 5'
Search 100 bp 3'