Canonical Allele Identifier: CA641904072

Gene: HSD17B10

Linked Data

• dbSNP Id: rs1556894628
• gnomAD v2: X-53459136-T-C
• gnomAD v3: X-53432188-T-C
• gnomAD v4: X-53432188-T-C
• MyVariant Identifiers: chrX:g.53459136T>C (hg19) ; chrX:g.53432188T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53432188T>C , CM000685.2:g.53432188T>C	GRCh38
NC_000023.10:g.53459136T>C , CM000685.1:g.53459136T>C	GRCh37
NC_000023.9:g.53475861T>C	NCBI36
NG_008153.1:g.7188A>G , LRG_450:g.7188A>G
NG_033076.2:g.14334T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495986.2:n.501+59A>G
ENST00000682365.1:n.1751A>G
ENST00000684251.1:n.201+59A>G
ENST00000684503.1:n.522+59A>G
ENST00000684692.1:c.357+59A>G	ENSP00000506792.1:n.357+59A>G
ENST00000168216.11:c.357+59A>G MANE Select	ENSP00000168216.6:n.357+59A>G
ENST00000168216.10:c.357+59A>G	ENSP00000168216.6:n.357+59A>G
ENST00000375298.4:c.357+59A>G	ENSP00000364447.4:n.357+59A>G
ENST00000375304.9:c.357+59A>G	ENSP00000364453.5:n.357+59A>G
ENST00000477706.1:n.76+59A>G
ENST00000495986.1:n.489+59A>G
NM_001037811.2:c.357+59A>G , LRG_450t2:c.357+59A>G	NP_001032900.1:n.357+59A>G
NM_004493.2:c.357+59A>G , LRG_450t1:c.357+59A>G	NP_004484.1:n.357+59A>G
NM_004493.3:c.357+59A>G MANE Select	NP_004484.1:n.357+59A>G