Canonical Allele Identifier: CA360864901

Gene: HSD17B4

Linked Data

• ClinVar Variation Id: 556974
• ClinVar RCV Id: RCV000673049 ; RCV001861817 ; RCV002532141
• dbSNP Id: rs1554062352
• MyVariant Identifiers: chr5:g.118811418G>T (hg19) ; chr5:g.119475723G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119475723G>T , CM000667.2:g.119475723G>T	GRCh38
NC_000005.9:g.118811418G>T , CM000667.1:g.118811418G>T	GRCh37
NC_000005.8:g.118839317G>T	NCBI36
NG_008182.1:g.28271G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.298G>T	ENSP00000426272.2:p.Ala100Ser
ENST00000518349.6:c.112+19355G>T	ENSP00000507185.1:n.112+19355G>T
ENST00000682445.1:c.*179G>T	ENSP00000508061.1:n.*179G>T
ENST00000682531.1:n.399G>T
ENST00000682626.1:c.373G>T	ENSP00000507857.1:p.Ala125Ser
ENST00000682996.1:c.298G>T	ENSP00000507792.1:p.Ala100Ser
ENST00000683265.1:n.391G>T
ENST00000683371.1:c.*428G>T	ENSP00000508376.1:n.*428G>T
ENST00000683390.1:n.346G>T
ENST00000683936.1:c.*183G>T	ENSP00000507721.1:n.*183G>T
ENST00000683974.1:n.380G>T
ENST00000684160.1:c.373G>T	ENSP00000507821.1:p.Ala125Ser
ENST00000684214.1:c.298G>T	ENSP00000508071.1:p.Ala100Ser
ENST00000414835.7:c.373G>T	ENSP00000411960.3:p.Ala125Ser
ENST00000510025.7:c.298G>T MANE Select	ENSP00000424940.3:p.Ala100Ser
ENST00000643250.1:c.*179G>T	ENSP00000494737.1:n.*179G>T
ENST00000644146.1:c.298G>T	ENSP00000494808.1:p.Ala100Ser
ENST00000645832.1:c.*183G>T	ENSP00000494316.1:n.*183G>T
ENST00000646058.1:c.298G>T	ENSP00000493579.1:p.Ala100Ser
ENST00000646355.1:c.*304G>T	ENSP00000493801.1:n.*304G>T
ENST00000646554.1:c.*179G>T	ENSP00000494542.1:n.*179G>T
ENST00000646590.1:c.298G>T	ENSP00000494892.1:p.Ala100Ser
ENST00000647335.1:c.*265G>T	ENSP00000495180.1:n.*265G>T
ENST00000647342.1:c.*179G>T	ENSP00000494992.1:n.*179G>T
ENST00000256216.10:c.298G>T	ENSP00000256216.6:p.Ala100Ser
ENST00000414835.6:c.-114G>T	ENSP00000411960.2:n.-114G>T
ENST00000442060.7:c.298G>T	ENSP00000390208.3:p.Ala100Ser
ENST00000503168.5:n.287G>T
ENST00000504811.5:c.373G>T	ENSP00000420914.1:p.Ala125Ser
ENST00000507695.1:n.270G>T
ENST00000510025.5:c.226G>T	ENSP00000424940.1:p.Ala76Ser
ENST00000511186.5:n.429G>T
ENST00000512841.5:n.346G>T
ENST00000515235.6:n.358G>T
ENST00000515320.5:c.244G>T	ENSP00000424613.1:p.Ala82Ser
NM_000414.3:c.298G>T	NP_000405.1:p.Ala100Ser
NM_001199291.2:c.373G>T	NP_001186220.1:p.Ala125Ser
NM_001199292.1:c.244G>T	NP_001186221.1:p.Ala82Ser
NM_001292027.1:c.226G>T	NP_001278956.1:p.Ala76Ser
NM_001292028.1:c.-114G>T	NP_001278957.1:n.-114G>T
NM_000414.4:c.298G>T MANE Select	NP_000405.1:p.Ala100Ser
NM_001199291.3:c.373G>T	NP_001186220.1:p.Ala125Ser
NM_001199292.2:c.244G>T	NP_001186221.1:p.Ala82Ser
NM_001292027.2:c.226G>T	NP_001278956.1:p.Ala76Ser
NM_001292028.2:c.-114G>T	NP_001278957.1:n.-114G>T
NM_001374497.1:c.298G>T	NP_001361426.1:p.Ala100Ser
NM_001374498.1:c.298G>T	NP_001361427.1:p.Ala100Ser
NM_001374499.1:c.18G>T	NP_001361428.1:p.Met6Ile
NM_001374500.1:c.-241G>T	NP_001361429.1:n.-241G>T
NM_001374501.1:c.-114G>T	NP_001361430.1:n.-114G>T
NM_001374502.1:c.-114G>T	NP_001361431.1:n.-114G>T
NM_001374503.1:c.-114G>T	NP_001361432.1:n.-114G>T
NR_164653.1:n.377G>T
NR_164654.1:n.565G>T