Canonical Allele Identifier: CA360866055

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814530A>C (hg19) ; chr5:g.119478835A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478835A>C , CM000667.2:g.119478835A>C	GRCh38
NC_000005.9:g.118814530A>C , CM000667.1:g.118814530A>C	GRCh37
NC_000005.8:g.118842429A>C	NCBI36
NG_008182.1:g.31383A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.436A>C	ENSP00000426272.2:p.Ile146Leu
ENST00000518349.6:c.113-17708A>C	ENSP00000507185.1:n.113-17708A>C
ENST00000682445.1:c.*317A>C	ENSP00000508061.1:n.*317A>C
ENST00000682531.1:n.537A>C
ENST00000682626.1:c.464A>C	ENSP00000507857.1:p.Asp155Ala
ENST00000682996.1:c.436A>C	ENSP00000507792.1:p.Ile146Leu
ENST00000683265.1:n.529A>C
ENST00000683371.1:c.*566A>C	ENSP00000508376.1:n.*566A>C
ENST00000683390.1:n.2126A>C
ENST00000683549.1:n.357A>C
ENST00000683936.1:c.*321A>C	ENSP00000507721.1:n.*321A>C
ENST00000683974.1:n.518A>C
ENST00000683996.1:c.25A>C	ENSP00000507060.1:p.Ile9Leu
ENST00000684131.1:n.275A>C
ENST00000684160.1:c.*126A>C	ENSP00000507821.1:n.*126A>C
ENST00000684214.1:c.436A>C	ENSP00000508071.1:p.Ile146Leu
ENST00000414835.7:c.511A>C	ENSP00000411960.3:p.Ile171Leu
ENST00000510025.7:c.436A>C MANE Select	ENSP00000424940.3:p.Ile146Leu
ENST00000643250.1:c.*308A>C	ENSP00000494737.1:n.*308A>C
ENST00000644146.1:c.*14A>C	ENSP00000494808.1:n.*14A>C
ENST00000645099.1:c.-6A>C	ENSP00000496091.1:n.-6A>C
ENST00000645702.1:c.25A>C	ENSP00000496432.1:p.Ile9Leu
ENST00000645832.1:c.*321A>C	ENSP00000494316.1:n.*321A>C
ENST00000646058.1:c.436A>C	ENSP00000493579.1:p.Ile146Leu
ENST00000646355.1:c.*442A>C	ENSP00000493801.1:n.*442A>C
ENST00000646554.1:c.*414A>C	ENSP00000494542.1:n.*414A>C
ENST00000646590.1:c.427A>C	ENSP00000494892.1:p.Ile143Leu
ENST00000647335.1:c.*403A>C	ENSP00000495180.1:n.*403A>C
ENST00000647342.1:c.*367A>C	ENSP00000494992.1:n.*367A>C
ENST00000256216.10:c.436A>C	ENSP00000256216.6:p.Ile146Leu
ENST00000414835.6:c.16A>C	ENSP00000411960.2:p.Ile6Leu
ENST00000442060.7:c.436A>C	ENSP00000390208.3:p.Ile146Leu
ENST00000503168.5:n.425A>C
ENST00000504811.5:c.511A>C	ENSP00000420914.1:p.Ile171Leu
ENST00000505181.5:n.139A>C
ENST00000508788.5:n.338A>C
ENST00000509514.5:c.-449A>C	ENSP00000426272.1:n.-449A>C
ENST00000510025.5:c.364A>C	ENSP00000424940.1:p.Ile122Leu
ENST00000512644.1:n.4A>C
ENST00000512841.5:n.484A>C
ENST00000513628.5:c.25A>C	ENSP00000425993.1:p.Ile9Leu
ENST00000515235.6:n.496A>C
ENST00000515320.5:c.382A>C	ENSP00000424613.1:p.Ile128Leu
NM_000414.3:c.436A>C	NP_000405.1:p.Ile146Leu
NM_001199291.2:c.511A>C	NP_001186220.1:p.Ile171Leu
NM_001199292.1:c.382A>C	NP_001186221.1:p.Ile128Leu
NM_001292027.1:c.364A>C	NP_001278956.1:p.Ile122Leu
NM_001292028.1:c.16A>C	NP_001278957.1:p.Ile6Leu
NM_000414.4:c.436A>C MANE Select	NP_000405.1:p.Ile146Leu
NM_001199291.3:c.511A>C	NP_001186220.1:p.Ile171Leu
NM_001199292.2:c.382A>C	NP_001186221.1:p.Ile128Leu
NM_001292027.2:c.364A>C	NP_001278956.1:p.Ile122Leu
NM_001292028.2:c.16A>C	NP_001278957.1:p.Ile6Leu
NM_001374497.1:c.427A>C	NP_001361426.1:p.Ile143Leu
NM_001374498.1:c.436A>C	NP_001361427.1:p.Ile146Leu
NM_001374499.1:c.109A>C	NP_001361428.1:p.Ile37Leu
NM_001374500.1:c.-6A>C	NP_001361429.1:n.-6A>C
NM_001374501.1:c.25A>C	NP_001361430.1:p.Ile9Leu
NM_001374502.1:c.25A>C	NP_001361431.1:p.Ile9Leu
NM_001374503.1:c.25A>C	NP_001361432.1:p.Ile9Leu
NR_164653.1:n.515A>C
NR_164654.1:n.703A>C