Canonical Allele Identifier: CA360866359

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814668A>T (hg19) ; chr5:g.119478973A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478973A>T , CM000667.2:g.119478973A>T	GRCh38
NC_000005.9:g.118814668A>T , CM000667.1:g.118814668A>T	GRCh37
NC_000005.8:g.118842567A>T	NCBI36
NG_008182.1:g.31521A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.574A>T	ENSP00000426272.2:p.Ile192Phe
ENST00000518349.6:c.113-17570A>T	ENSP00000507185.1:n.113-17570A>T
ENST00000682445.1:c.*455A>T	ENSP00000508061.1:n.*455A>T
ENST00000682531.1:n.675A>T
ENST00000682626.1:c.*80A>T	ENSP00000507857.1:n.*80A>T
ENST00000682996.1:c.574A>T	ENSP00000507792.1:p.Ile192Phe
ENST00000683265.1:n.667A>T
ENST00000683371.1:c.*704A>T	ENSP00000508376.1:n.*704A>T
ENST00000683390.1:n.2264A>T
ENST00000683549.1:n.495A>T
ENST00000683936.1:c.*459A>T	ENSP00000507721.1:n.*459A>T
ENST00000683974.1:n.656A>T
ENST00000683996.1:c.163A>T	ENSP00000507060.1:p.Ile55Phe
ENST00000684131.1:n.413A>T
ENST00000684160.1:c.*264A>T	ENSP00000507821.1:n.*264A>T
ENST00000684214.1:c.574A>T	ENSP00000508071.1:p.Ile192Phe
ENST00000414835.7:c.649A>T	ENSP00000411960.3:p.Ile217Phe
ENST00000510025.7:c.574A>T MANE Select	ENSP00000424940.3:p.Ile192Phe
ENST00000643250.1:c.*446A>T	ENSP00000494737.1:n.*446A>T
ENST00000644146.1:c.*152A>T	ENSP00000494808.1:n.*152A>T
ENST00000645099.1:c.133A>T	ENSP00000496091.1:p.Ile45Phe
ENST00000645702.1:c.163A>T	ENSP00000496432.1:p.Ile55Phe
ENST00000645832.1:c.*459A>T	ENSP00000494316.1:n.*459A>T
ENST00000646058.1:c.574A>T	ENSP00000493579.1:p.Ile192Phe
ENST00000646355.1:c.*580A>T	ENSP00000493801.1:n.*580A>T
ENST00000646554.1:c.*552A>T	ENSP00000494542.1:n.*552A>T
ENST00000647335.1:c.*541A>T	ENSP00000495180.1:n.*541A>T
ENST00000647342.1:c.*505A>T	ENSP00000494992.1:n.*505A>T
ENST00000256216.10:c.574A>T	ENSP00000256216.6:p.Ile192Phe
ENST00000414835.6:c.154A>T	ENSP00000411960.2:p.Ile52Phe
ENST00000442060.7:c.574A>T	ENSP00000390208.3:p.Ile192Phe
ENST00000503168.5:n.563A>T
ENST00000504811.5:c.649A>T	ENSP00000420914.1:p.Ile217Phe
ENST00000505181.5:n.277A>T
ENST00000509514.5:c.-311A>T	ENSP00000426272.1:n.-311A>T
ENST00000510025.5:c.502A>T	ENSP00000424940.1:p.Ile168Phe
ENST00000512644.1:n.142A>T
ENST00000513628.5:c.163A>T	ENSP00000425993.1:p.Ile55Phe
ENST00000515235.6:n.634A>T
ENST00000515320.5:c.520A>T	ENSP00000424613.1:p.Ile174Phe
NM_000414.3:c.574A>T	NP_000405.1:p.Ile192Phe
NM_001199291.2:c.649A>T	NP_001186220.1:p.Ile217Phe
NM_001199292.1:c.520A>T	NP_001186221.1:p.Ile174Phe
NM_001292027.1:c.502A>T	NP_001278956.1:p.Ile168Phe
NM_001292028.1:c.154A>T	NP_001278957.1:p.Ile52Phe
NM_000414.4:c.574A>T MANE Select	NP_000405.1:p.Ile192Phe
NM_001199291.3:c.649A>T	NP_001186220.1:p.Ile217Phe
NM_001199292.2:c.520A>T	NP_001186221.1:p.Ile174Phe
NM_001292027.2:c.502A>T	NP_001278956.1:p.Ile168Phe
NM_001292028.2:c.154A>T	NP_001278957.1:p.Ile52Phe
NM_001374497.1:c.565A>T	NP_001361426.1:p.Ile189Phe
NM_001374498.1:c.574A>T	NP_001361427.1:p.Ile192Phe
NM_001374499.1:c.247A>T	NP_001361428.1:p.Ile83Phe
NM_001374500.1:c.133A>T	NP_001361429.1:p.Ile45Phe
NM_001374501.1:c.163A>T	NP_001361430.1:p.Ile55Phe
NM_001374502.1:c.163A>T	NP_001361431.1:p.Ile55Phe
NM_001374503.1:c.163A>T	NP_001361432.1:p.Ile55Phe
NR_164653.1:n.653A>T
NR_164654.1:n.841A>T