Canonical Allele Identifier: CA1133170699

Gene: HSD17B10

Linked Data

• dbSNP Id: rs2075827627
• gnomAD v3: X-53432203-T-A
• gnomAD v4: X-53432203-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53432203T>A , CM000685.2:g.53432203T>A	GRCh38
NC_000023.10:g.53459151T>A , CM000685.1:g.53459151T>A	GRCh37
NC_000023.9:g.53475876T>A	NCBI36
NG_008153.1:g.7173A>T , LRG_450:g.7173A>T
NG_033076.2:g.14349T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495986.2:n.501+44A>T
ENST00000682365.1:n.1736A>T
ENST00000684251.1:n.201+44A>T
ENST00000684503.1:n.522+44A>T
ENST00000684692.1:c.357+44A>T	ENSP00000506792.1:n.357+44A>T
ENST00000168216.11:c.357+44A>T MANE Select	ENSP00000168216.6:n.357+44A>T
ENST00000168216.10:c.357+44A>T	ENSP00000168216.6:n.357+44A>T
ENST00000375298.4:c.357+44A>T	ENSP00000364447.4:n.357+44A>T
ENST00000375304.9:c.357+44A>T	ENSP00000364453.5:n.357+44A>T
ENST00000477706.1:n.76+44A>T
ENST00000495986.1:n.489+44A>T
NM_001037811.2:c.357+44A>T , LRG_450t2:c.357+44A>T	NP_001032900.1:n.357+44A>T
NM_004493.2:c.357+44A>T , LRG_450t1:c.357+44A>T	NP_004484.1:n.357+44A>T
NM_004493.3:c.357+44A>T MANE Select	NP_004484.1:n.357+44A>T