Canonical Allele Identifier: CA2674977219

Gene: HSD17B4

Linked Data

• gnomAD v4: 5-119452724-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119452724G>A , CM000667.2:g.119452724G>A	GRCh38
NC_000005.9:g.118788419G>A , CM000667.1:g.118788419G>A	GRCh37
NC_000005.8:g.118816318G>A	NCBI36
NG_008182.1:g.5272G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.58+91G>A	ENSP00000426272.2:n.58+91G>A
ENST00000512841.6:n.99+91G>A
ENST00000518349.6:c.58+91G>A	ENSP00000507185.1:n.58+91G>A
ENST00000682445.1:c.58+91G>A	ENSP00000508061.1:n.58+91G>A
ENST00000682996.1:c.58+91G>A	ENSP00000507792.1:n.58+91G>A
ENST00000683371.1:c.58+91G>A	ENSP00000508376.1:n.58+91G>A
ENST00000683390.1:n.106+91G>A
ENST00000683936.1:c.58+91G>A	ENSP00000507721.1:n.58+91G>A
ENST00000683974.1:n.140+91G>A
ENST00000684214.1:c.58+91G>A	ENSP00000508071.1:n.58+91G>A
ENST00000414835.7:c.-30G>A	ENSP00000411960.3:n.-30G>A
ENST00000510025.7:c.58+91G>A MANE Select	ENSP00000424940.3:n.58+91G>A
ENST00000644146.1:c.58+91G>A	ENSP00000494808.1:n.58+91G>A
ENST00000645832.1:c.58+91G>A	ENSP00000494316.1:n.58+91G>A
ENST00000646058.1:c.58+91G>A	ENSP00000493579.1:n.58+91G>A
ENST00000646355.1:c.-30G>A	ENSP00000493801.1:n.-30G>A
ENST00000646590.1:c.58+91G>A	ENSP00000494892.1:n.58+91G>A
ENST00000647335.1:c.-30G>A	ENSP00000495180.1:n.-30G>A
ENST00000256216.10:c.58+91G>A	ENSP00000256216.6:n.58+91G>A
ENST00000442060.7:c.58+91G>A	ENSP00000390208.3:n.58+91G>A
ENST00000504811.5:c.-30G>A	ENSP00000420914.1:n.-30G>A
ENST00000510025.5:c.-80+91G>A	ENSP00000424940.1:n.-80+91G>A
ENST00000511186.5:n.161+91G>A
ENST00000512841.5:n.9G>A
ENST00000515235.6:n.118+91G>A
ENST00000515320.5:c.58+91G>A	ENSP00000424613.1:n.58+91G>A
ENST00000519184.5:n.69+91G>A
NM_000414.3:c.58+91G>A	NP_000405.1:n.58+91G>A
NM_001199291.2:c.-30G>A	NP_001186220.1:n.-30G>A
NM_001199292.1:c.58+91G>A	NP_001186221.1:n.58+91G>A
NM_001292027.1:c.-80+91G>A	NP_001278956.1:n.-80+91G>A
NM_001292028.1:c.-451G>A	NP_001278957.1:n.-451G>A
NM_000414.4:c.58+91G>A MANE Select	NP_000405.1:n.58+91G>A
NM_001199291.3:c.-30G>A	NP_001186220.1:n.-30G>A
NM_001199292.2:c.58+91G>A	NP_001186221.1:n.58+91G>A
NM_001292027.2:c.-80+91G>A	NP_001278956.1:n.-80+91G>A
NM_001292028.2:c.-451G>A	NP_001278957.1:n.-451G>A
NM_001374497.1:c.58+91G>A	NP_001361426.1:n.58+91G>A
NM_001374498.1:c.58+91G>A	NP_001361427.1:n.58+91G>A
NM_001374499.1:c.-385G>A	NP_001361428.1:n.-385G>A
NM_001374500.1:c.-578G>A	NP_001361429.1:n.-578G>A
NM_001374501.1:c.-451G>A	NP_001361430.1:n.-451G>A
NM_001374502.1:c.-456G>A	NP_001361431.1:n.-456G>A
NM_001374503.1:c.-521G>A	NP_001361432.1:n.-521G>A
NR_164653.1:n.137+91G>A
NR_164654.1:n.228G>A