Canonical Allele Identifier: CA360868895

Gene: HSD17B4

Linked Data

• gnomAD v4: 5-119514984-G-A
• MyVariant Identifiers: chr5:g.118850679G>A (hg19) ; chr5:g.119514984G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119514984G>A , CM000667.2:g.119514984G>A	GRCh38
NC_000005.9:g.118850679G>A , CM000667.1:g.118850679G>A	GRCh37
NC_000005.8:g.118878578G>A	NCBI36
NG_008182.1:g.67532G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.1372G>A	ENSP00000426272.2:p.Ala458Thr
ENST00000518349.6:c.685G>A	ENSP00000507185.1:p.Ala229Thr
ENST00000520244.6:n.3179G>A
ENST00000682445.1:c.*1322G>A	ENSP00000508061.1:n.*1322G>A
ENST00000682531.1:n.3333G>A
ENST00000682626.1:c.*947G>A	ENSP00000507857.1:n.*947G>A
ENST00000682996.1:c.1369G>A	ENSP00000507792.1:p.Ala457Thr
ENST00000683265.1:n.3227G>A
ENST00000683335.1:n.2843G>A
ENST00000683371.1:c.*1571G>A	ENSP00000508376.1:n.*1571G>A
ENST00000683372.1:n.3451G>A
ENST00000683390.1:n.3131G>A
ENST00000683549.1:n.3055G>A
ENST00000683936.1:c.*3019G>A	ENSP00000507721.1:n.*3019G>A
ENST00000683974.1:n.3213-43G>A
ENST00000683996.1:c.*651G>A	ENSP00000507060.1:n.*651G>A
ENST00000684131.1:n.2973G>A
ENST00000684160.1:c.*1131G>A	ENSP00000507821.1:n.*1131G>A
ENST00000684214.1:c.1441G>A	ENSP00000508071.1:p.Ala481Thr
ENST00000414835.7:c.1516G>A	ENSP00000411960.3:p.Ala506Thr
ENST00000510025.7:c.1441G>A MANE Select	ENSP00000424940.3:p.Ala481Thr
ENST00000643250.1:c.*1313G>A	ENSP00000494737.1:n.*1313G>A
ENST00000644146.1:c.*2712G>A	ENSP00000494808.1:n.*2712G>A
ENST00000645099.1:c.1000G>A	ENSP00000496091.1:p.Ala334Thr
ENST00000645702.1:c.*844G>A	ENSP00000496432.1:n.*844G>A
ENST00000645832.1:c.*1326G>A	ENSP00000494316.1:n.*1326G>A
ENST00000646058.1:c.1441G>A	ENSP00000493579.1:p.Ala481Thr
ENST00000646355.1:c.*1447G>A	ENSP00000493801.1:n.*1447G>A
ENST00000646554.1:c.*1419G>A	ENSP00000494542.1:n.*1419G>A
ENST00000647335.1:c.*1408G>A	ENSP00000495180.1:n.*1408G>A
ENST00000647342.1:c.*1372G>A	ENSP00000494992.1:n.*1372G>A
ENST00000256216.10:c.1441G>A	ENSP00000256216.6:p.Ala481Thr
ENST00000414835.6:c.1021G>A	ENSP00000411960.2:p.Ala341Thr
ENST00000442060.7:c.*3G>A	ENSP00000390208.3:n.*3G>A
ENST00000504811.5:c.1516G>A	ENSP00000420914.1:p.Ala506Thr
ENST00000509514.5:c.655G>A	ENSP00000426272.1:p.Ala219Thr
ENST00000510025.5:c.1369G>A	ENSP00000424940.1:p.Ala457Thr
ENST00000513628.5:c.1030G>A	ENSP00000425993.1:p.Ala344Thr
ENST00000515235.6:n.3194G>A
ENST00000515320.5:c.1387G>A	ENSP00000424613.1:p.Ala463Thr
ENST00000518349.5:n.575G>A
ENST00000520244.5:n.224G>A
ENST00000522415.5:n.108G>A
NM_000414.3:c.1441G>A	NP_000405.1:p.Ala481Thr
NM_001199291.2:c.1516G>A	NP_001186220.1:p.Ala506Thr
NM_001199292.1:c.1387G>A	NP_001186221.1:p.Ala463Thr
NM_001292027.1:c.1369G>A	NP_001278956.1:p.Ala457Thr
NM_001292028.1:c.1021G>A	NP_001278957.1:p.Ala341Thr
NM_000414.4:c.1441G>A MANE Select	NP_000405.1:p.Ala481Thr
NM_001199291.3:c.1516G>A	NP_001186220.1:p.Ala506Thr
NM_001199292.2:c.1387G>A	NP_001186221.1:p.Ala463Thr
NM_001292027.2:c.1369G>A	NP_001278956.1:p.Ala457Thr
NM_001292028.2:c.1021G>A	NP_001278957.1:p.Ala341Thr
NM_001374497.1:c.1432G>A	NP_001361426.1:p.Ala478Thr
NM_001374498.1:c.1369G>A	NP_001361427.1:p.Ala457Thr
NM_001374499.1:c.1114G>A	NP_001361428.1:p.Ala372Thr
NM_001374500.1:c.1000G>A	NP_001361429.1:p.Ala334Thr
NM_001374501.1:c.1030G>A	NP_001361430.1:p.Ala344Thr
NM_001374502.1:c.1030G>A	NP_001361431.1:p.Ala344Thr
NM_001374503.1:c.1030G>A	NP_001361432.1:p.Ala344Thr
NR_164653.1:n.1538G>A
NR_164654.1:n.1806G>A