Canonical Allele Identifier: CA360865076

Gene: HSD17B4

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119477434C>T , CM000667.2:g.119477434C>T	GRCh38
NC_000005.9:g.118813129C>T , CM000667.1:g.118813129C>T	GRCh37
NC_000005.8:g.118841028C>T	NCBI36
NG_008182.1:g.29982C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000414.4:c.367C>T MANE Select	NP_000405.1:p.His123Tyr
ENST00000510025.7:c.367C>T MANE Select	ENSP00000424940.3:p.His123Tyr
NM_000414.3:c.367C>T	NP_000405.1:p.His123Tyr
NM_001199291.2:c.442C>T	NP_001186220.1:p.His148Tyr
NM_001199291.3:c.442C>T	NP_001186220.1:p.His148Tyr
NM_001199292.1:c.313C>T	NP_001186221.1:p.His105Tyr
NM_001199292.2:c.313C>T	NP_001186221.1:p.His105Tyr
NM_001292027.1:c.295C>T	NP_001278956.1:p.His99Tyr
NM_001292027.2:c.295C>T	NP_001278956.1:p.His99Tyr
NM_001292028.1:c.-45C>T	NP_001278957.1:n.-45C>T
NM_001292028.2:c.-45C>T	NP_001278957.1:n.-45C>T
NM_001374497.1:c.367C>T	NP_001361426.1:p.His123Tyr
NM_001374498.1:c.367C>T	NP_001361427.1:p.His123Tyr
NM_001374499.1:c.40C>T	NP_001361428.1:p.His14Tyr
NM_001374500.1:c.-172C>T	NP_001361429.1:n.-172C>T
NM_001374501.1:c.-45C>T	NP_001361430.1:n.-45C>T
NM_001374502.1:c.-45C>T	NP_001361431.1:n.-45C>T
NM_001374503.1:c.-45C>T	NP_001361432.1:n.-45C>T
NR_164653.1:n.446C>T
NR_164654.1:n.634C>T
ENST00000256216.10:c.367C>T	ENSP00000256216.6:p.His123Tyr
ENST00000414835.6:c.-45C>T	ENSP00000411960.2:n.-45C>T
ENST00000414835.7:c.442C>T	ENSP00000411960.3:p.His148Tyr
ENST00000442060.7:c.367C>T	ENSP00000390208.3:p.His123Tyr
ENST00000503168.5:n.356C>T
ENST00000504811.5:c.442C>T	ENSP00000420914.1:p.His148Tyr
ENST00000505181.5:n.70C>T
ENST00000508788.5:n.172C>T
ENST00000509514.5:c.-518C>T	ENSP00000426272.1:n.-518C>T
ENST00000509514.6:c.367C>T	ENSP00000426272.2:p.His123Tyr
ENST00000510025.5:c.295C>T	ENSP00000424940.1:p.His99Tyr
ENST00000511186.5:n.498C>T
ENST00000512841.5:n.415C>T
ENST00000513628.5:c.-45C>T	ENSP00000425993.1:n.-45C>T
ENST00000515235.6:n.427C>T
ENST00000515320.5:c.313C>T	ENSP00000424613.1:p.His105Tyr
ENST00000518349.6:c.113-19109C>T	ENSP00000507185.1:n.113-19109C>T
ENST00000643250.1:c.*248C>T	ENSP00000494737.1:n.*248C>T
ENST00000644146.1:c.367C>T	ENSP00000494808.1:p.His123Tyr
ENST00000645099.1:c.-123C>T	ENSP00000496091.1:n.-123C>T
ENST00000645702.1:c.-45C>T	ENSP00000496432.1:n.-45C>T
ENST00000645832.1:c.*252C>T	ENSP00000494316.1:n.*252C>T
ENST00000646058.1:c.367C>T	ENSP00000493579.1:p.His123Tyr
ENST00000646355.1:c.*373C>T	ENSP00000493801.1:n.*373C>T
ENST00000646554.1:c.*248C>T	ENSP00000494542.1:n.*248C>T
ENST00000646590.1:c.367C>T	ENSP00000494892.1:p.His123Tyr
ENST00000647335.1:c.*334C>T	ENSP00000495180.1:n.*334C>T
ENST00000647342.1:c.*298C>T	ENSP00000494992.1:n.*298C>T
ENST00000682445.1:c.*248C>T	ENSP00000508061.1:n.*248C>T
ENST00000682531.1:n.468C>T
ENST00000682626.1:c.395C>T	ENSP00000507857.1:p.Ser132Leu
ENST00000682996.1:c.367C>T	ENSP00000507792.1:p.His123Tyr
ENST00000683265.1:n.460C>T
ENST00000683371.1:c.*497C>T	ENSP00000508376.1:n.*497C>T
ENST00000683390.1:n.2057C>T
ENST00000683549.1:n.191C>T
ENST00000683936.1:c.*252C>T	ENSP00000507721.1:n.*252C>T
ENST00000683974.1:n.449C>T
ENST00000683996.1:c.-45C>T	ENSP00000507060.1:n.-45C>T
ENST00000684131.1:n.206C>T
ENST00000684160.1:c.*57C>T	ENSP00000507821.1:n.*57C>T
ENST00000684214.1:c.367C>T	ENSP00000508071.1:p.His123Tyr