Canonical Allele Identifier: CA360866345

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814662A>C (hg19) ; chr5:g.119478967A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478967A>C , CM000667.2:g.119478967A>C	GRCh38
NC_000005.9:g.118814662A>C , CM000667.1:g.118814662A>C	GRCh37
NC_000005.8:g.118842561A>C	NCBI36
NG_008182.1:g.31515A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.568A>C	ENSP00000426272.2:p.Asn190His
ENST00000518349.6:c.113-17576A>C	ENSP00000507185.1:n.113-17576A>C
ENST00000682445.1:c.*449A>C	ENSP00000508061.1:n.*449A>C
ENST00000682531.1:n.669A>C
ENST00000682626.1:c.*74A>C	ENSP00000507857.1:n.*74A>C
ENST00000682996.1:c.568A>C	ENSP00000507792.1:p.Asn190His
ENST00000683265.1:n.661A>C
ENST00000683371.1:c.*698A>C	ENSP00000508376.1:n.*698A>C
ENST00000683390.1:n.2258A>C
ENST00000683549.1:n.489A>C
ENST00000683936.1:c.*453A>C	ENSP00000507721.1:n.*453A>C
ENST00000683974.1:n.650A>C
ENST00000683996.1:c.157A>C	ENSP00000507060.1:p.Asn53His
ENST00000684131.1:n.407A>C
ENST00000684160.1:c.*258A>C	ENSP00000507821.1:n.*258A>C
ENST00000684214.1:c.568A>C	ENSP00000508071.1:p.Asn190His
ENST00000414835.7:c.643A>C	ENSP00000411960.3:p.Asn215His
ENST00000510025.7:c.568A>C MANE Select	ENSP00000424940.3:p.Asn190His
ENST00000643250.1:c.*440A>C	ENSP00000494737.1:n.*440A>C
ENST00000644146.1:c.*146A>C	ENSP00000494808.1:n.*146A>C
ENST00000645099.1:c.127A>C	ENSP00000496091.1:p.Asn43His
ENST00000645702.1:c.157A>C	ENSP00000496432.1:p.Asn53His
ENST00000645832.1:c.*453A>C	ENSP00000494316.1:n.*453A>C
ENST00000646058.1:c.568A>C	ENSP00000493579.1:p.Asn190His
ENST00000646355.1:c.*574A>C	ENSP00000493801.1:n.*574A>C
ENST00000646554.1:c.*546A>C	ENSP00000494542.1:n.*546A>C
ENST00000647335.1:c.*535A>C	ENSP00000495180.1:n.*535A>C
ENST00000647342.1:c.*499A>C	ENSP00000494992.1:n.*499A>C
ENST00000256216.10:c.568A>C	ENSP00000256216.6:p.Asn190His
ENST00000414835.6:c.148A>C	ENSP00000411960.2:p.Asn50His
ENST00000442060.7:c.568A>C	ENSP00000390208.3:p.Asn190His
ENST00000503168.5:n.557A>C
ENST00000504811.5:c.643A>C	ENSP00000420914.1:p.Asn215His
ENST00000505181.5:n.271A>C
ENST00000509514.5:c.-317A>C	ENSP00000426272.1:n.-317A>C
ENST00000510025.5:c.496A>C	ENSP00000424940.1:p.Asn166His
ENST00000512644.1:n.136A>C
ENST00000513628.5:c.157A>C	ENSP00000425993.1:p.Asn53His
ENST00000515235.6:n.628A>C
ENST00000515320.5:c.514A>C	ENSP00000424613.1:p.Asn172His
NM_000414.3:c.568A>C	NP_000405.1:p.Asn190His
NM_001199291.2:c.643A>C	NP_001186220.1:p.Asn215His
NM_001199292.1:c.514A>C	NP_001186221.1:p.Asn172His
NM_001292027.1:c.496A>C	NP_001278956.1:p.Asn166His
NM_001292028.1:c.148A>C	NP_001278957.1:p.Asn50His
NM_000414.4:c.568A>C MANE Select	NP_000405.1:p.Asn190His
NM_001199291.3:c.643A>C	NP_001186220.1:p.Asn215His
NM_001199292.2:c.514A>C	NP_001186221.1:p.Asn172His
NM_001292027.2:c.496A>C	NP_001278956.1:p.Asn166His
NM_001292028.2:c.148A>C	NP_001278957.1:p.Asn50His
NM_001374497.1:c.559A>C	NP_001361426.1:p.Asn187His
NM_001374498.1:c.568A>C	NP_001361427.1:p.Asn190His
NM_001374499.1:c.241A>C	NP_001361428.1:p.Asn81His
NM_001374500.1:c.127A>C	NP_001361429.1:p.Asn43His
NM_001374501.1:c.157A>C	NP_001361430.1:p.Asn53His
NM_001374502.1:c.157A>C	NP_001361431.1:p.Asn53His
NM_001374503.1:c.157A>C	NP_001361432.1:p.Asn53His
NR_164653.1:n.647A>C
NR_164654.1:n.835A>C