Canonical Allele Identifier: CA446041541

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814676T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478981T>A , CM000667.2:g.119478981T>A	GRCh38
NC_000005.9:g.118814676T>A , CM000667.1:g.118814676T>A	GRCh37
NC_000005.8:g.118842575T>A	NCBI36
NG_008182.1:g.31529T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.582T>A	ENSP00000426272.2:p.Pro194=
ENST00000518349.6:c.113-17562T>A	ENSP00000507185.1:n.113-17562T>A
ENST00000682445.1:c.*463T>A	ENSP00000508061.1:n.*463T>A
ENST00000682531.1:n.683T>A
ENST00000682626.1:c.*88T>A	ENSP00000507857.1:n.*88T>A
ENST00000682996.1:c.582T>A	ENSP00000507792.1:p.Pro194=
ENST00000683265.1:n.675T>A
ENST00000683371.1:c.*712T>A	ENSP00000508376.1:n.*712T>A
ENST00000683390.1:n.2272T>A
ENST00000683549.1:n.503T>A
ENST00000683936.1:c.*467T>A	ENSP00000507721.1:n.*467T>A
ENST00000683974.1:n.664T>A
ENST00000683996.1:c.171T>A	ENSP00000507060.1:p.Pro57=
ENST00000684131.1:n.421T>A
ENST00000684160.1:c.*272T>A	ENSP00000507821.1:n.*272T>A
ENST00000684214.1:c.582T>A	ENSP00000508071.1:p.Pro194=
ENST00000414835.7:c.657T>A	ENSP00000411960.3:p.Pro219=
ENST00000510025.7:c.582T>A MANE Select	ENSP00000424940.3:p.Pro194=
ENST00000643250.1:c.*454T>A	ENSP00000494737.1:n.*454T>A
ENST00000644146.1:c.*160T>A	ENSP00000494808.1:n.*160T>A
ENST00000645099.1:c.141T>A	ENSP00000496091.1:p.Pro47=
ENST00000645702.1:c.171T>A	ENSP00000496432.1:p.Pro57=
ENST00000645832.1:c.*467T>A	ENSP00000494316.1:n.*467T>A
ENST00000646058.1:c.582T>A	ENSP00000493579.1:p.Pro194=
ENST00000646355.1:c.*588T>A	ENSP00000493801.1:n.*588T>A
ENST00000646554.1:c.*560T>A	ENSP00000494542.1:n.*560T>A
ENST00000647335.1:c.*549T>A	ENSP00000495180.1:n.*549T>A
ENST00000647342.1:c.*513T>A	ENSP00000494992.1:n.*513T>A
ENST00000256216.10:c.582T>A	ENSP00000256216.6:p.Pro194=
ENST00000414835.6:c.162T>A	ENSP00000411960.2:p.Pro54=
ENST00000442060.7:c.582T>A	ENSP00000390208.3:p.Pro194=
ENST00000503168.5:n.571T>A
ENST00000504811.5:c.657T>A	ENSP00000420914.1:p.Pro219=
ENST00000505181.5:n.285T>A
ENST00000509514.5:c.-303T>A	ENSP00000426272.1:n.-303T>A
ENST00000510025.5:c.510T>A	ENSP00000424940.1:p.Pro170=
ENST00000512644.1:n.150T>A
ENST00000513628.5:c.171T>A	ENSP00000425993.1:p.Pro57=
ENST00000515235.6:n.642T>A
ENST00000515320.5:c.528T>A	ENSP00000424613.1:p.Pro176=
NM_000414.3:c.582T>A	NP_000405.1:p.Pro194=
NM_001199291.2:c.657T>A	NP_001186220.1:p.Pro219=
NM_001199292.1:c.528T>A	NP_001186221.1:p.Pro176=
NM_001292027.1:c.510T>A	NP_001278956.1:p.Pro170=
NM_001292028.1:c.162T>A	NP_001278957.1:p.Pro54=
NM_000414.4:c.582T>A MANE Select	NP_000405.1:p.Pro194=
NM_001199291.3:c.657T>A	NP_001186220.1:p.Pro219=
NM_001199292.2:c.528T>A	NP_001186221.1:p.Pro176=
NM_001292027.2:c.510T>A	NP_001278956.1:p.Pro170=
NM_001292028.2:c.162T>A	NP_001278957.1:p.Pro54=
NM_001374497.1:c.573T>A	NP_001361426.1:p.Pro191=
NM_001374498.1:c.582T>A	NP_001361427.1:p.Pro194=
NM_001374499.1:c.255T>A	NP_001361428.1:p.Pro85=
NM_001374500.1:c.141T>A	NP_001361429.1:p.Pro47=
NM_001374501.1:c.171T>A	NP_001361430.1:p.Pro57=
NM_001374502.1:c.171T>A	NP_001361431.1:p.Pro57=
NM_001374503.1:c.171T>A	NP_001361432.1:p.Pro57=
NR_164653.1:n.661T>A
NR_164654.1:n.849T>A