Canonical Allele Identifier: CA10421030

Gene: HSD17B10

Linked Data

• dbSNP Id: rs782246927
• ExAC: X:53459383 G / C
• gnomAD v2: X-53459383-G-C
• gnomAD v3: X-53432435-G-C
• gnomAD v4: X-53432435-G-C
• MyVariant Identifiers: chrX:g.53459383G>C (hg19) ; chrX:g.53432435G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53432435G>C , CM000685.2:g.53432435G>C	GRCh38
NC_000023.10:g.53459383G>C , CM000685.1:g.53459383G>C	GRCh37
NC_000023.9:g.53476108G>C	NCBI36
NG_008153.1:g.6941C>G , LRG_450:g.6941C>G
NG_033076.2:g.14581G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000495986.2:n.337-24C>G
ENST00000682365.1:n.1504C>G
ENST00000684251.1:n.13C>G
ENST00000684503.1:n.334C>G
ENST00000684692.1:c.193-24C>G	ENSP00000506792.1:n.193-24C>G
ENST00000168216.11:c.193-24C>G MANE Select	ENSP00000168216.6:n.193-24C>G
ENST00000168216.10:c.193-24C>G	ENSP00000168216.6:n.193-24C>G
ENST00000375298.4:c.193-24C>G	ENSP00000364447.4:n.193-24C>G
ENST00000375304.9:c.193-24C>G	ENSP00000364453.5:n.193-24C>G
ENST00000495986.1:n.325-24C>G
NM_001037811.2:c.193-24C>G , LRG_450t2:c.193-24C>G	NP_001032900.1:n.193-24C>G
NM_004493.2:c.193-24C>G , LRG_450t1:c.193-24C>G	NP_004484.1:n.193-24C>G
NM_004493.3:c.193-24C>G MANE Select	NP_004484.1:n.193-24C>G