Canonical Allele Identifier: CA360864952

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118811535T>G (hg19) ; chr5:g.119475840T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119475840T>G , CM000667.2:g.119475840T>G	GRCh38
NC_000005.9:g.118811535T>G , CM000667.1:g.118811535T>G	GRCh37
NC_000005.8:g.118839434T>G	NCBI36
NG_008182.1:g.28388T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.319T>G	ENSP00000426272.2:p.Ser107Ala
ENST00000518349.6:c.112+19472T>G	ENSP00000507185.1:n.112+19472T>G
ENST00000682445.1:c.*200T>G	ENSP00000508061.1:n.*200T>G
ENST00000682531.1:n.420T>G
ENST00000682626.1:c.377+113T>G	ENSP00000507857.1:n.377+113T>G
ENST00000682996.1:c.319T>G	ENSP00000507792.1:p.Ser107Ala
ENST00000683265.1:n.412T>G
ENST00000683371.1:c.*449T>G	ENSP00000508376.1:n.*449T>G
ENST00000683390.1:n.463T>G
ENST00000683936.1:c.*204T>G	ENSP00000507721.1:n.*204T>G
ENST00000683974.1:n.401T>G
ENST00000684160.1:c.394T>G	ENSP00000507821.1:p.Ser132Ala
ENST00000684214.1:c.319T>G	ENSP00000508071.1:p.Ser107Ala
ENST00000414835.7:c.394T>G	ENSP00000411960.3:p.Ser132Ala
ENST00000510025.7:c.319T>G MANE Select	ENSP00000424940.3:p.Ser107Ala
ENST00000643250.1:c.*200T>G	ENSP00000494737.1:n.*200T>G
ENST00000644146.1:c.319T>G	ENSP00000494808.1:p.Ser107Ala
ENST00000645832.1:c.*204T>G	ENSP00000494316.1:n.*204T>G
ENST00000646058.1:c.319T>G	ENSP00000493579.1:p.Ser107Ala
ENST00000646355.1:c.*325T>G	ENSP00000493801.1:n.*325T>G
ENST00000646554.1:c.*200T>G	ENSP00000494542.1:n.*200T>G
ENST00000646590.1:c.319T>G	ENSP00000494892.1:p.Ser107Ala
ENST00000647335.1:c.*286T>G	ENSP00000495180.1:n.*286T>G
ENST00000647342.1:c.*200T>G	ENSP00000494992.1:n.*200T>G
ENST00000256216.10:c.319T>G	ENSP00000256216.6:p.Ser107Ala
ENST00000414835.6:c.-93T>G	ENSP00000411960.2:n.-93T>G
ENST00000442060.7:c.319T>G	ENSP00000390208.3:p.Ser107Ala
ENST00000503168.5:n.308T>G
ENST00000504811.5:c.394T>G	ENSP00000420914.1:p.Ser132Ala
ENST00000507695.1:n.291T>G
ENST00000510025.5:c.247T>G	ENSP00000424940.1:p.Ser83Ala
ENST00000511186.5:n.450T>G
ENST00000512841.5:n.367T>G
ENST00000515235.6:n.379T>G
ENST00000515320.5:c.265T>G	ENSP00000424613.1:p.Ser89Ala
NM_000414.3:c.319T>G	NP_000405.1:p.Ser107Ala
NM_001199291.2:c.394T>G	NP_001186220.1:p.Ser132Ala
NM_001199292.1:c.265T>G	NP_001186221.1:p.Ser89Ala
NM_001292027.1:c.247T>G	NP_001278956.1:p.Ser83Ala
NM_001292028.1:c.-93T>G	NP_001278957.1:n.-93T>G
NM_000414.4:c.319T>G MANE Select	NP_000405.1:p.Ser107Ala
NM_001199291.3:c.394T>G	NP_001186220.1:p.Ser132Ala
NM_001199292.2:c.265T>G	NP_001186221.1:p.Ser89Ala
NM_001292027.2:c.247T>G	NP_001278956.1:p.Ser83Ala
NM_001292028.2:c.-93T>G	NP_001278957.1:n.-93T>G
NM_001374497.1:c.319T>G	NP_001361426.1:p.Ser107Ala
NM_001374498.1:c.319T>G	NP_001361427.1:p.Ser107Ala
NM_001374499.1:c.22+113T>G	NP_001361428.1:n.22+113T>G
NM_001374500.1:c.-220T>G	NP_001361429.1:n.-220T>G
NM_001374501.1:c.-93T>G	NP_001361430.1:n.-93T>G
NM_001374502.1:c.-93T>G	NP_001361431.1:n.-93T>G
NM_001374503.1:c.-93T>G	NP_001361432.1:n.-93T>G
NR_164653.1:n.398T>G
NR_164654.1:n.586T>G