Canonical Allele Identifier: CA360866870

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118824888T>G (hg19) ; chr5:g.119489193T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119489193T>G , CM000667.2:g.119489193T>G	GRCh38
NC_000005.9:g.118824888T>G , CM000667.1:g.118824888T>G	GRCh37
NC_000005.8:g.118852787T>G	NCBI36
NG_008182.1:g.41741T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.624T>G	ENSP00000426272.2:p.Asp208Glu
ENST00000518349.6:c.113-7350T>G	ENSP00000507185.1:n.113-7350T>G
ENST00000682445.1:c.*505T>G	ENSP00000508061.1:n.*505T>G
ENST00000682531.1:n.725T>G
ENST00000682626.1:c.*130T>G	ENSP00000507857.1:n.*130T>G
ENST00000682996.1:c.624T>G	ENSP00000507792.1:p.Asp208Glu
ENST00000683265.1:n.717T>G
ENST00000683371.1:c.*754T>G	ENSP00000508376.1:n.*754T>G
ENST00000683390.1:n.2314T>G
ENST00000683549.1:n.545T>G
ENST00000683936.1:c.*509T>G	ENSP00000507721.1:n.*509T>G
ENST00000683974.1:n.706T>G
ENST00000683996.1:c.213T>G	ENSP00000507060.1:p.Asp71Glu
ENST00000684131.1:n.463T>G
ENST00000684160.1:c.*314T>G	ENSP00000507821.1:n.*314T>G
ENST00000684214.1:c.624T>G	ENSP00000508071.1:p.Asp208Glu
ENST00000414835.7:c.699T>G	ENSP00000411960.3:p.Asp233Glu
ENST00000510025.7:c.624T>G MANE Select	ENSP00000424940.3:p.Asp208Glu
ENST00000643250.1:c.*496T>G	ENSP00000494737.1:n.*496T>G
ENST00000644146.1:c.*202T>G	ENSP00000494808.1:n.*202T>G
ENST00000645099.1:c.183T>G	ENSP00000496091.1:p.Asp61Glu
ENST00000645702.1:c.*27T>G	ENSP00000496432.1:n.*27T>G
ENST00000645832.1:c.*509T>G	ENSP00000494316.1:n.*509T>G
ENST00000646058.1:c.624T>G	ENSP00000493579.1:p.Asp208Glu
ENST00000646355.1:c.*630T>G	ENSP00000493801.1:n.*630T>G
ENST00000646554.1:c.*602T>G	ENSP00000494542.1:n.*602T>G
ENST00000647335.1:c.*591T>G	ENSP00000495180.1:n.*591T>G
ENST00000647342.1:c.*555T>G	ENSP00000494992.1:n.*555T>G
ENST00000256216.10:c.624T>G	ENSP00000256216.6:p.Asp208Glu
ENST00000414835.6:c.204T>G	ENSP00000411960.2:p.Asp68Glu
ENST00000442060.7:c.624T>G	ENSP00000390208.3:p.Asp208Glu
ENST00000504811.5:c.699T>G	ENSP00000420914.1:p.Asp233Glu
ENST00000505181.5:n.327T>G
ENST00000509514.5:c.-261T>G	ENSP00000426272.1:n.-261T>G
ENST00000510025.5:c.552T>G	ENSP00000424940.1:p.Asp184Glu
ENST00000512644.1:n.192T>G
ENST00000513628.5:c.213T>G	ENSP00000425993.1:p.Asp71Glu
ENST00000515235.6:n.684T>G
ENST00000515320.5:c.570T>G	ENSP00000424613.1:p.Asp190Glu
NM_000414.3:c.624T>G	NP_000405.1:p.Asp208Glu
NM_001199291.2:c.699T>G	NP_001186220.1:p.Asp233Glu
NM_001199292.1:c.570T>G	NP_001186221.1:p.Asp190Glu
NM_001292027.1:c.552T>G	NP_001278956.1:p.Asp184Glu
NM_001292028.1:c.204T>G	NP_001278957.1:p.Asp68Glu
NM_000414.4:c.624T>G MANE Select	NP_000405.1:p.Asp208Glu
NM_001199291.3:c.699T>G	NP_001186220.1:p.Asp233Glu
NM_001199292.2:c.570T>G	NP_001186221.1:p.Asp190Glu
NM_001292027.2:c.552T>G	NP_001278956.1:p.Asp184Glu
NM_001292028.2:c.204T>G	NP_001278957.1:p.Asp68Glu
NM_001374497.1:c.615T>G	NP_001361426.1:p.Asp205Glu
NM_001374498.1:c.624T>G	NP_001361427.1:p.Asp208Glu
NM_001374499.1:c.297T>G	NP_001361428.1:p.Asp99Glu
NM_001374500.1:c.183T>G	NP_001361429.1:p.Asp61Glu
NM_001374501.1:c.213T>G	NP_001361430.1:p.Asp71Glu
NM_001374502.1:c.213T>G	NP_001361431.1:p.Asp71Glu
NM_001374503.1:c.213T>G	NP_001361432.1:p.Asp71Glu
NR_164653.1:n.703T>G
NR_164654.1:n.891T>G