Canonical Allele Identifier: CA446036920

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118867026T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119531331T>C , CM000667.2:g.119531331T>C	GRCh38
NC_000005.9:g.118867026T>C , CM000667.1:g.118867026T>C	GRCh37
NC_000005.8:g.118894925T>C	NCBI36
NG_008182.1:g.83879T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.1851T>C	ENSP00000426272.2:p.Pro617=
ENST00000518349.6:c.1164T>C	ENSP00000507185.1:p.Pro388=
ENST00000682445.1:c.*1801T>C	ENSP00000508061.1:n.*1801T>C
ENST00000682531.1:n.3812T>C
ENST00000682626.1:c.*1426T>C	ENSP00000507857.1:n.*1426T>C
ENST00000682996.1:c.1848T>C	ENSP00000507792.1:p.Pro616=
ENST00000683265.1:n.3706T>C
ENST00000683335.1:n.3322T>C
ENST00000683371.1:c.*2050T>C	ENSP00000508376.1:n.*2050T>C
ENST00000683372.1:n.3930T>C
ENST00000683390.1:n.3610T>C
ENST00000683476.1:n.762T>C
ENST00000683549.1:n.3534T>C
ENST00000683936.1:c.*3498T>C	ENSP00000507721.1:n.*3498T>C
ENST00000683974.1:n.3649T>C
ENST00000683996.1:c.*1130T>C	ENSP00000507060.1:n.*1130T>C
ENST00000684131.1:n.3452T>C
ENST00000684160.1:c.*1610T>C	ENSP00000507821.1:n.*1610T>C
ENST00000684214.1:c.1854+1351T>C	ENSP00000508071.1:n.1854+1351T>C
ENST00000414835.7:c.1995T>C	ENSP00000411960.3:p.Pro665=
ENST00000510025.7:c.1920T>C MANE Select	ENSP00000424940.3:p.Pro640=
ENST00000643250.1:c.*1792T>C	ENSP00000494737.1:n.*1792T>C
ENST00000644146.1:c.*3191T>C	ENSP00000494808.1:n.*3191T>C
ENST00000645099.1:c.1479T>C	ENSP00000496091.1:p.Pro493=
ENST00000645702.1:c.*1323T>C	ENSP00000496432.1:n.*1323T>C
ENST00000645832.1:c.*1805T>C	ENSP00000494316.1:n.*1805T>C
ENST00000646058.1:c.1920T>C	ENSP00000493579.1:p.Pro640=
ENST00000646355.1:c.*1926T>C	ENSP00000493801.1:n.*1926T>C
ENST00000646554.1:c.*1898T>C	ENSP00000494542.1:n.*1898T>C
ENST00000647335.1:c.*1887T>C	ENSP00000495180.1:n.*1887T>C
ENST00000647342.1:c.*1851T>C	ENSP00000494992.1:n.*1851T>C
ENST00000256216.10:c.1920T>C	ENSP00000256216.6:p.Pro640=
ENST00000414835.6:c.1500T>C	ENSP00000411960.2:p.Pro500=
ENST00000442060.7:c.*475T>C	ENSP00000390208.3:n.*475T>C
ENST00000504811.5:c.1995T>C	ENSP00000420914.1:p.Pro665=
ENST00000509514.5:c.1134T>C	ENSP00000426272.1:p.Pro378=
ENST00000509606.1:n.215T>C
ENST00000509951.5:n.309+1351T>C
ENST00000510025.5:c.1848T>C	ENSP00000424940.1:p.Pro616=
ENST00000513628.5:c.1509T>C	ENSP00000425993.1:p.Pro503=
ENST00000515235.6:n.3673T>C
ENST00000515320.5:c.1866T>C	ENSP00000424613.1:p.Pro622=
ENST00000522415.5:n.587T>C
NM_000414.3:c.1920T>C	NP_000405.1:p.Pro640=
NM_001199291.2:c.1995T>C	NP_001186220.1:p.Pro665=
NM_001199292.1:c.1866T>C	NP_001186221.1:p.Pro622=
NM_001292027.1:c.1848T>C	NP_001278956.1:p.Pro616=
NM_001292028.1:c.1500T>C	NP_001278957.1:p.Pro500=
NM_000414.4:c.1920T>C MANE Select	NP_000405.1:p.Pro640=
NM_001199291.3:c.1995T>C	NP_001186220.1:p.Pro665=
NM_001199292.2:c.1866T>C	NP_001186221.1:p.Pro622=
NM_001292027.2:c.1848T>C	NP_001278956.1:p.Pro616=
NM_001292028.2:c.1500T>C	NP_001278957.1:p.Pro500=
NM_001374497.1:c.1911T>C	NP_001361426.1:p.Pro637=
NM_001374498.1:c.1848T>C	NP_001361427.1:p.Pro616=
NM_001374499.1:c.1593T>C	NP_001361428.1:p.Pro531=
NM_001374500.1:c.1479T>C	NP_001361429.1:p.Pro493=
NM_001374501.1:c.1509T>C	NP_001361430.1:p.Pro503=
NM_001374502.1:c.1509T>C	NP_001361431.1:p.Pro503=
NM_001374503.1:c.1509T>C	NP_001361432.1:p.Pro503=
NR_164653.1:n.2017T>C
NR_164654.1:n.2285T>C