Canonical Allele Identifier: CA125859061

Gene: HSD17B4

Linked Data

• dbSNP Id: rs939075568
• gnomAD v3: 5-119475653-T-G
• gnomAD v4: 5-119475653-T-G
• MyVariant Identifiers: chr5:g.118811348T>G (hg19) ; chr5:g.119475653T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119475653T>G , CM000667.2:g.119475653T>G	GRCh38
NC_000005.9:g.118811348T>G , CM000667.1:g.118811348T>G	GRCh37
NC_000005.8:g.118839247T>G	NCBI36
NG_008182.1:g.28201T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.281-53T>G	ENSP00000426272.2:n.281-53T>G
ENST00000518349.6:c.112+19285T>G	ENSP00000507185.1:n.112+19285T>G
ENST00000682445.1:c.*162-53T>G	ENSP00000508061.1:n.*162-53T>G
ENST00000682531.1:n.382-53T>G
ENST00000682626.1:c.356-53T>G	ENSP00000507857.1:n.356-53T>G
ENST00000682996.1:c.281-53T>G	ENSP00000507792.1:n.281-53T>G
ENST00000683265.1:n.374-53T>G
ENST00000683371.1:c.*411-53T>G	ENSP00000508376.1:n.*411-53T>G
ENST00000683390.1:n.329-53T>G
ENST00000683936.1:c.*166-53T>G	ENSP00000507721.1:n.*166-53T>G
ENST00000683974.1:n.363-53T>G
ENST00000684160.1:c.356-53T>G	ENSP00000507821.1:n.356-53T>G
ENST00000684214.1:c.281-53T>G	ENSP00000508071.1:n.281-53T>G
ENST00000414835.7:c.356-53T>G	ENSP00000411960.3:n.356-53T>G
ENST00000510025.7:c.281-53T>G MANE Select	ENSP00000424940.3:n.281-53T>G
ENST00000643250.1:c.*162-53T>G	ENSP00000494737.1:n.*162-53T>G
ENST00000644146.1:c.281-53T>G	ENSP00000494808.1:n.281-53T>G
ENST00000645832.1:c.*166-53T>G	ENSP00000494316.1:n.*166-53T>G
ENST00000646058.1:c.281-53T>G	ENSP00000493579.1:n.281-53T>G
ENST00000646355.1:c.*287-53T>G	ENSP00000493801.1:n.*287-53T>G
ENST00000646554.1:c.*162-53T>G	ENSP00000494542.1:n.*162-53T>G
ENST00000646590.1:c.281-53T>G	ENSP00000494892.1:n.281-53T>G
ENST00000647335.1:c.*248-53T>G	ENSP00000495180.1:n.*248-53T>G
ENST00000647342.1:c.*162-53T>G	ENSP00000494992.1:n.*162-53T>G
ENST00000256216.10:c.281-53T>G	ENSP00000256216.6:n.281-53T>G
ENST00000414835.6:c.-131-53T>G	ENSP00000411960.2:n.-131-53T>G
ENST00000442060.7:c.281-53T>G	ENSP00000390208.3:n.281-53T>G
ENST00000503168.5:n.270-53T>G
ENST00000504811.5:c.356-53T>G	ENSP00000420914.1:n.356-53T>G
ENST00000507695.1:n.225-25T>G
ENST00000510025.5:c.209-53T>G	ENSP00000424940.1:n.209-53T>G
ENST00000511186.5:n.384-25T>G
ENST00000512841.5:n.329-53T>G
ENST00000515235.6:n.341-53T>G
ENST00000515320.5:c.227-53T>G	ENSP00000424613.1:n.227-53T>G
NM_000414.3:c.281-53T>G	NP_000405.1:n.281-53T>G
NM_001199291.2:c.356-53T>G	NP_001186220.1:n.356-53T>G
NM_001199292.1:c.227-53T>G	NP_001186221.1:n.227-53T>G
NM_001292027.1:c.209-53T>G	NP_001278956.1:n.209-53T>G
NM_001292028.1:c.-131-53T>G	NP_001278957.1:n.-131-53T>G
NM_000414.4:c.281-53T>G MANE Select	NP_000405.1:n.281-53T>G
NM_001199291.3:c.356-53T>G	NP_001186220.1:n.356-53T>G
NM_001199292.2:c.227-53T>G	NP_001186221.1:n.227-53T>G
NM_001292027.2:c.209-53T>G	NP_001278956.1:n.209-53T>G
NM_001292028.2:c.-131-53T>G	NP_001278957.1:n.-131-53T>G
NM_001374497.1:c.281-53T>G	NP_001361426.1:n.281-53T>G
NM_001374498.1:c.281-53T>G	NP_001361427.1:n.281-53T>G
NM_001374499.1:c.1-53T>G	NP_001361428.1:n.1-53T>G
NM_001374500.1:c.-258-53T>G	NP_001361429.1:n.-258-53T>G
NM_001374501.1:c.-131-53T>G	NP_001361430.1:n.-131-53T>G
NM_001374502.1:c.-131-53T>G	NP_001361431.1:n.-131-53T>G
NM_001374503.1:c.-131-53T>G	NP_001361432.1:n.-131-53T>G
NR_164653.1:n.360-53T>G
NR_164654.1:n.548-53T>G