Canonical Allele Identifier: CA10421019
Gene: HSD17B10 HGNC NCBI

Linked Data

ClinVar Variation Id: 1585455
dbSNP Id: rs201378370
gnomAD v2: X-53459269-C-T
gnomAD v3: X-53432321-C-T
gnomAD v4: X-53432321-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53432321C>T , CM000685.2:g.53432321C>T GRCh38
NC_000023.10:g.53459269C>T , CM000685.1:g.53459269C>T GRCh37
NC_000023.9:g.53475994C>T NCBI36
NG_008153.1:g.7055G>A , LRG_450:g.7055G>A
NG_033076.2:g.14467C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000495986.2:n.427G>A
ENST00000682365.1:n.1618G>A
ENST00000684251.1:n.127G>A
ENST00000684503.1:n.448G>A
ENST00000684692.1:c.283G>A ENSP00000506792.1:p.Ala95Thr
ENST00000168216.11:c.283G>A MANE Select ENSP00000168216.6:p.Ala95Thr
ENST00000168216.10:c.283G>A ENSP00000168216.6:p.Ala95Thr
ENST00000375298.4:c.283G>A ENSP00000364447.4:p.Ala95Thr
ENST00000375304.9:c.283G>A ENSP00000364453.5:p.Ala95Thr
ENST00000477706.1:n.2G>A
ENST00000495986.1:n.415G>A
NM_001037811.2:c.283G>A , LRG_450t2:c.283G>A NP_001032900.1:p.Ala95Thr
NM_004493.2:c.283G>A , LRG_450t1:c.283G>A NP_004484.1:p.Ala95Thr
NM_004493.3:c.283G>A MANE Select NP_004484.1:p.Ala95Thr