Canonical Allele Identifier: CA360866251

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814618C>T (hg19) ; chr5:g.119478923C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478923C>T , CM000667.2:g.119478923C>T	GRCh38
NC_000005.9:g.118814618C>T , CM000667.1:g.118814618C>T	GRCh37
NC_000005.8:g.118842517C>T	NCBI36
NG_008182.1:g.31471C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.524C>T	ENSP00000426272.2:p.Ala175Val
ENST00000518349.6:c.113-17620C>T	ENSP00000507185.1:n.113-17620C>T
ENST00000682445.1:c.*405C>T	ENSP00000508061.1:n.*405C>T
ENST00000682531.1:n.625C>T
ENST00000682626.1:c.*30C>T	ENSP00000507857.1:n.*30C>T
ENST00000682996.1:c.524C>T	ENSP00000507792.1:p.Ala175Val
ENST00000683265.1:n.617C>T
ENST00000683371.1:c.*654C>T	ENSP00000508376.1:n.*654C>T
ENST00000683390.1:n.2214C>T
ENST00000683549.1:n.445C>T
ENST00000683936.1:c.*409C>T	ENSP00000507721.1:n.*409C>T
ENST00000683974.1:n.606C>T
ENST00000683996.1:c.113C>T	ENSP00000507060.1:p.Ala38Val
ENST00000684131.1:n.363C>T
ENST00000684160.1:c.*214C>T	ENSP00000507821.1:n.*214C>T
ENST00000684214.1:c.524C>T	ENSP00000508071.1:p.Ala175Val
ENST00000414835.7:c.599C>T	ENSP00000411960.3:p.Ala200Val
ENST00000510025.7:c.524C>T MANE Select	ENSP00000424940.3:p.Ala175Val
ENST00000643250.1:c.*396C>T	ENSP00000494737.1:n.*396C>T
ENST00000644146.1:c.*102C>T	ENSP00000494808.1:n.*102C>T
ENST00000645099.1:c.83C>T	ENSP00000496091.1:p.Ala28Val
ENST00000645702.1:c.113C>T	ENSP00000496432.1:p.Ala38Val
ENST00000645832.1:c.*409C>T	ENSP00000494316.1:n.*409C>T
ENST00000646058.1:c.524C>T	ENSP00000493579.1:p.Ala175Val
ENST00000646355.1:c.*530C>T	ENSP00000493801.1:n.*530C>T
ENST00000646554.1:c.*502C>T	ENSP00000494542.1:n.*502C>T
ENST00000647335.1:c.*491C>T	ENSP00000495180.1:n.*491C>T
ENST00000647342.1:c.*455C>T	ENSP00000494992.1:n.*455C>T
ENST00000256216.10:c.524C>T	ENSP00000256216.6:p.Ala175Val
ENST00000414835.6:c.104C>T	ENSP00000411960.2:p.Ala35Val
ENST00000442060.7:c.524C>T	ENSP00000390208.3:p.Ala175Val
ENST00000503168.5:n.513C>T
ENST00000504811.5:c.599C>T	ENSP00000420914.1:p.Ala200Val
ENST00000505181.5:n.227C>T
ENST00000508788.5:n.426C>T
ENST00000509514.5:c.-361C>T	ENSP00000426272.1:n.-361C>T
ENST00000510025.5:c.452C>T	ENSP00000424940.1:p.Ala151Val
ENST00000512644.1:n.92C>T
ENST00000512841.5:n.572C>T
ENST00000513628.5:c.113C>T	ENSP00000425993.1:p.Ala38Val
ENST00000515235.6:n.584C>T
ENST00000515320.5:c.470C>T	ENSP00000424613.1:p.Ala157Val
NM_000414.3:c.524C>T	NP_000405.1:p.Ala175Val
NM_001199291.2:c.599C>T	NP_001186220.1:p.Ala200Val
NM_001199292.1:c.470C>T	NP_001186221.1:p.Ala157Val
NM_001292027.1:c.452C>T	NP_001278956.1:p.Ala151Val
NM_001292028.1:c.104C>T	NP_001278957.1:p.Ala35Val
NM_000414.4:c.524C>T MANE Select	NP_000405.1:p.Ala175Val
NM_001199291.3:c.599C>T	NP_001186220.1:p.Ala200Val
NM_001199292.2:c.470C>T	NP_001186221.1:p.Ala157Val
NM_001292027.2:c.452C>T	NP_001278956.1:p.Ala151Val
NM_001292028.2:c.104C>T	NP_001278957.1:p.Ala35Val
NM_001374497.1:c.515C>T	NP_001361426.1:p.Ala172Val
NM_001374498.1:c.524C>T	NP_001361427.1:p.Ala175Val
NM_001374499.1:c.197C>T	NP_001361428.1:p.Ala66Val
NM_001374500.1:c.83C>T	NP_001361429.1:p.Ala28Val
NM_001374501.1:c.113C>T	NP_001361430.1:p.Ala38Val
NM_001374502.1:c.113C>T	NP_001361431.1:p.Ala38Val
NM_001374503.1:c.113C>T	NP_001361432.1:p.Ala38Val
NR_164653.1:n.603C>T
NR_164654.1:n.791C>T