Canonical Allele Identifier: CA360866432

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814705T>A (hg19) ; chr5:g.119479010T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119479010T>A , CM000667.2:g.119479010T>A	GRCh38
NC_000005.9:g.118814705T>A , CM000667.1:g.118814705T>A	GRCh37
NC_000005.8:g.118842604T>A	NCBI36
NG_008182.1:g.31558T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.611T>A	ENSP00000426272.2:p.Val204Asp
ENST00000518349.6:c.113-17533T>A	ENSP00000507185.1:n.113-17533T>A
ENST00000682445.1:c.*492T>A	ENSP00000508061.1:n.*492T>A
ENST00000682531.1:n.712T>A
ENST00000682626.1:c.*117T>A	ENSP00000507857.1:n.*117T>A
ENST00000682996.1:c.611T>A	ENSP00000507792.1:p.Val204Asp
ENST00000683265.1:n.704T>A
ENST00000683371.1:c.*741T>A	ENSP00000508376.1:n.*741T>A
ENST00000683390.1:n.2301T>A
ENST00000683549.1:n.532T>A
ENST00000683936.1:c.*496T>A	ENSP00000507721.1:n.*496T>A
ENST00000683974.1:n.693T>A
ENST00000683996.1:c.200T>A	ENSP00000507060.1:p.Val67Asp
ENST00000684131.1:n.450T>A
ENST00000684160.1:c.*301T>A	ENSP00000507821.1:n.*301T>A
ENST00000684214.1:c.611T>A	ENSP00000508071.1:p.Val204Asp
ENST00000414835.7:c.686T>A	ENSP00000411960.3:p.Val229Asp
ENST00000510025.7:c.611T>A MANE Select	ENSP00000424940.3:p.Val204Asp
ENST00000643250.1:c.*483T>A	ENSP00000494737.1:n.*483T>A
ENST00000644146.1:c.*189T>A	ENSP00000494808.1:n.*189T>A
ENST00000645099.1:c.170T>A	ENSP00000496091.1:p.Val57Asp
ENST00000645702.1:c.200T>A	ENSP00000496432.1:p.Val67Asp
ENST00000645832.1:c.*496T>A	ENSP00000494316.1:n.*496T>A
ENST00000646058.1:c.611T>A	ENSP00000493579.1:p.Val204Asp
ENST00000646355.1:c.*617T>A	ENSP00000493801.1:n.*617T>A
ENST00000646554.1:c.*589T>A	ENSP00000494542.1:n.*589T>A
ENST00000647335.1:c.*578T>A	ENSP00000495180.1:n.*578T>A
ENST00000647342.1:c.*542T>A	ENSP00000494992.1:n.*542T>A
ENST00000256216.10:c.611T>A	ENSP00000256216.6:p.Val204Asp
ENST00000414835.6:c.191T>A	ENSP00000411960.2:p.Val64Asp
ENST00000442060.7:c.611T>A	ENSP00000390208.3:p.Val204Asp
ENST00000504811.5:c.686T>A	ENSP00000420914.1:p.Val229Asp
ENST00000505181.5:n.314T>A
ENST00000509514.5:c.-274T>A	ENSP00000426272.1:n.-274T>A
ENST00000510025.5:c.539T>A	ENSP00000424940.1:p.Val180Asp
ENST00000512644.1:n.179T>A
ENST00000513628.5:c.200T>A	ENSP00000425993.1:p.Val67Asp
ENST00000515235.6:n.671T>A
ENST00000515320.5:c.557T>A	ENSP00000424613.1:p.Val186Asp
NM_000414.3:c.611T>A	NP_000405.1:p.Val204Asp
NM_001199291.2:c.686T>A	NP_001186220.1:p.Val229Asp
NM_001199292.1:c.557T>A	NP_001186221.1:p.Val186Asp
NM_001292027.1:c.539T>A	NP_001278956.1:p.Val180Asp
NM_001292028.1:c.191T>A	NP_001278957.1:p.Val64Asp
NM_000414.4:c.611T>A MANE Select	NP_000405.1:p.Val204Asp
NM_001199291.3:c.686T>A	NP_001186220.1:p.Val229Asp
NM_001199292.2:c.557T>A	NP_001186221.1:p.Val186Asp
NM_001292027.2:c.539T>A	NP_001278956.1:p.Val180Asp
NM_001292028.2:c.191T>A	NP_001278957.1:p.Val64Asp
NM_001374497.1:c.602T>A	NP_001361426.1:p.Val201Asp
NM_001374498.1:c.611T>A	NP_001361427.1:p.Val204Asp
NM_001374499.1:c.284T>A	NP_001361428.1:p.Val95Asp
NM_001374500.1:c.170T>A	NP_001361429.1:p.Val57Asp
NM_001374501.1:c.200T>A	NP_001361430.1:p.Val67Asp
NM_001374502.1:c.200T>A	NP_001361431.1:p.Val67Asp
NM_001374503.1:c.200T>A	NP_001361432.1:p.Val67Asp
NR_164653.1:n.690T>A
NR_164654.1:n.878T>A