Canonical Allele Identifier: CA360866350

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814663A>T (hg19) ; chr5:g.119478968A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478968A>T , CM000667.2:g.119478968A>T	GRCh38
NC_000005.9:g.118814663A>T , CM000667.1:g.118814663A>T	GRCh37
NC_000005.8:g.118842562A>T	NCBI36
NG_008182.1:g.31516A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.569A>T	ENSP00000426272.2:p.Asn190Ile
ENST00000518349.6:c.113-17575A>T	ENSP00000507185.1:n.113-17575A>T
ENST00000682445.1:c.*450A>T	ENSP00000508061.1:n.*450A>T
ENST00000682531.1:n.670A>T
ENST00000682626.1:c.*75A>T	ENSP00000507857.1:n.*75A>T
ENST00000682996.1:c.569A>T	ENSP00000507792.1:p.Asn190Ile
ENST00000683265.1:n.662A>T
ENST00000683371.1:c.*699A>T	ENSP00000508376.1:n.*699A>T
ENST00000683390.1:n.2259A>T
ENST00000683549.1:n.490A>T
ENST00000683936.1:c.*454A>T	ENSP00000507721.1:n.*454A>T
ENST00000683974.1:n.651A>T
ENST00000683996.1:c.158A>T	ENSP00000507060.1:p.Asn53Ile
ENST00000684131.1:n.408A>T
ENST00000684160.1:c.*259A>T	ENSP00000507821.1:n.*259A>T
ENST00000684214.1:c.569A>T	ENSP00000508071.1:p.Asn190Ile
ENST00000414835.7:c.644A>T	ENSP00000411960.3:p.Asn215Ile
ENST00000510025.7:c.569A>T MANE Select	ENSP00000424940.3:p.Asn190Ile
ENST00000643250.1:c.*441A>T	ENSP00000494737.1:n.*441A>T
ENST00000644146.1:c.*147A>T	ENSP00000494808.1:n.*147A>T
ENST00000645099.1:c.128A>T	ENSP00000496091.1:p.Asn43Ile
ENST00000645702.1:c.158A>T	ENSP00000496432.1:p.Asn53Ile
ENST00000645832.1:c.*454A>T	ENSP00000494316.1:n.*454A>T
ENST00000646058.1:c.569A>T	ENSP00000493579.1:p.Asn190Ile
ENST00000646355.1:c.*575A>T	ENSP00000493801.1:n.*575A>T
ENST00000646554.1:c.*547A>T	ENSP00000494542.1:n.*547A>T
ENST00000647335.1:c.*536A>T	ENSP00000495180.1:n.*536A>T
ENST00000647342.1:c.*500A>T	ENSP00000494992.1:n.*500A>T
ENST00000256216.10:c.569A>T	ENSP00000256216.6:p.Asn190Ile
ENST00000414835.6:c.149A>T	ENSP00000411960.2:p.Asn50Ile
ENST00000442060.7:c.569A>T	ENSP00000390208.3:p.Asn190Ile
ENST00000503168.5:n.558A>T
ENST00000504811.5:c.644A>T	ENSP00000420914.1:p.Asn215Ile
ENST00000505181.5:n.272A>T
ENST00000509514.5:c.-316A>T	ENSP00000426272.1:n.-316A>T
ENST00000510025.5:c.497A>T	ENSP00000424940.1:p.Asn166Ile
ENST00000512644.1:n.137A>T
ENST00000513628.5:c.158A>T	ENSP00000425993.1:p.Asn53Ile
ENST00000515235.6:n.629A>T
ENST00000515320.5:c.515A>T	ENSP00000424613.1:p.Asn172Ile
NM_000414.3:c.569A>T	NP_000405.1:p.Asn190Ile
NM_001199291.2:c.644A>T	NP_001186220.1:p.Asn215Ile
NM_001199292.1:c.515A>T	NP_001186221.1:p.Asn172Ile
NM_001292027.1:c.497A>T	NP_001278956.1:p.Asn166Ile
NM_001292028.1:c.149A>T	NP_001278957.1:p.Asn50Ile
NM_000414.4:c.569A>T MANE Select	NP_000405.1:p.Asn190Ile
NM_001199291.3:c.644A>T	NP_001186220.1:p.Asn215Ile
NM_001199292.2:c.515A>T	NP_001186221.1:p.Asn172Ile
NM_001292027.2:c.497A>T	NP_001278956.1:p.Asn166Ile
NM_001292028.2:c.149A>T	NP_001278957.1:p.Asn50Ile
NM_001374497.1:c.560A>T	NP_001361426.1:p.Asn187Ile
NM_001374498.1:c.569A>T	NP_001361427.1:p.Asn190Ile
NM_001374499.1:c.242A>T	NP_001361428.1:p.Asn81Ile
NM_001374500.1:c.128A>T	NP_001361429.1:p.Asn43Ile
NM_001374501.1:c.158A>T	NP_001361430.1:p.Asn53Ile
NM_001374502.1:c.158A>T	NP_001361431.1:p.Asn53Ile
NM_001374503.1:c.158A>T	NP_001361432.1:p.Asn53Ile
NR_164653.1:n.648A>T
NR_164654.1:n.836A>T