Canonical Allele Identifier: CA2693808018

Gene: HSD17B10

Linked Data

• gnomAD v4: X-53432235-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53432235C>T , CM000685.2:g.53432235C>T	GRCh38
NC_000023.10:g.53459183C>T , CM000685.1:g.53459183C>T	GRCh37
NC_000023.9:g.53475908C>T	NCBI36
NG_008153.1:g.7141G>A , LRG_450:g.7141G>A
NG_033076.2:g.14381C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495986.2:n.501+12G>A
ENST00000682365.1:n.1704G>A
ENST00000684251.1:n.201+12G>A
ENST00000684503.1:n.522+12G>A
ENST00000684692.1:c.357+12G>A	ENSP00000506792.1:n.357+12G>A
ENST00000168216.11:c.357+12G>A MANE Select	ENSP00000168216.6:n.357+12G>A
ENST00000168216.10:c.357+12G>A	ENSP00000168216.6:n.357+12G>A
ENST00000375298.4:c.357+12G>A	ENSP00000364447.4:n.357+12G>A
ENST00000375304.9:c.357+12G>A	ENSP00000364453.5:n.357+12G>A
ENST00000477706.1:n.76+12G>A
ENST00000495986.1:n.489+12G>A
NM_001037811.2:c.357+12G>A , LRG_450t2:c.357+12G>A	NP_001032900.1:n.357+12G>A
NM_004493.2:c.357+12G>A , LRG_450t1:c.357+12G>A	NP_004484.1:n.357+12G>A
NM_004493.3:c.357+12G>A MANE Select	NP_004484.1:n.357+12G>A