Canonical Allele Identifier: CA360866186

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814587A>T (hg19) ; chr5:g.119478892A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478892A>T , CM000667.2:g.119478892A>T	GRCh38
NC_000005.9:g.118814587A>T , CM000667.1:g.118814587A>T	GRCh37
NC_000005.8:g.118842486A>T	NCBI36
NG_008182.1:g.31440A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.493A>T	ENSP00000426272.2:p.Ser165Cys
ENST00000518349.6:c.113-17651A>T	ENSP00000507185.1:n.113-17651A>T
ENST00000682445.1:c.*374A>T	ENSP00000508061.1:n.*374A>T
ENST00000682531.1:n.594A>T
ENST00000682626.1:c.521A>T	ENSP00000507857.1:p.Ter174Leu
ENST00000682996.1:c.493A>T	ENSP00000507792.1:p.Ser165Cys
ENST00000683265.1:n.586A>T
ENST00000683371.1:c.*623A>T	ENSP00000508376.1:n.*623A>T
ENST00000683390.1:n.2183A>T
ENST00000683549.1:n.414A>T
ENST00000683936.1:c.*378A>T	ENSP00000507721.1:n.*378A>T
ENST00000683974.1:n.575A>T
ENST00000683996.1:c.82A>T	ENSP00000507060.1:p.Ser28Cys
ENST00000684131.1:n.332A>T
ENST00000684160.1:c.*183A>T	ENSP00000507821.1:n.*183A>T
ENST00000684214.1:c.493A>T	ENSP00000508071.1:p.Ser165Cys
ENST00000414835.7:c.568A>T	ENSP00000411960.3:p.Ser190Cys
ENST00000510025.7:c.493A>T MANE Select	ENSP00000424940.3:p.Ser165Cys
ENST00000643250.1:c.*365A>T	ENSP00000494737.1:n.*365A>T
ENST00000644146.1:c.*71A>T	ENSP00000494808.1:n.*71A>T
ENST00000645099.1:c.52A>T	ENSP00000496091.1:p.Ser18Cys
ENST00000645702.1:c.82A>T	ENSP00000496432.1:p.Ser28Cys
ENST00000645832.1:c.*378A>T	ENSP00000494316.1:n.*378A>T
ENST00000646058.1:c.493A>T	ENSP00000493579.1:p.Ser165Cys
ENST00000646355.1:c.*499A>T	ENSP00000493801.1:n.*499A>T
ENST00000646554.1:c.*471A>T	ENSP00000494542.1:n.*471A>T
ENST00000646590.1:c.484A>T	ENSP00000494892.1:p.Ser162Cys
ENST00000647335.1:c.*460A>T	ENSP00000495180.1:n.*460A>T
ENST00000647342.1:c.*424A>T	ENSP00000494992.1:n.*424A>T
ENST00000256216.10:c.493A>T	ENSP00000256216.6:p.Ser165Cys
ENST00000414835.6:c.73A>T	ENSP00000411960.2:p.Ser25Cys
ENST00000442060.7:c.493A>T	ENSP00000390208.3:p.Ser165Cys
ENST00000503168.5:n.482A>T
ENST00000504811.5:c.568A>T	ENSP00000420914.1:p.Ser190Cys
ENST00000505181.5:n.196A>T
ENST00000508788.5:n.395A>T
ENST00000509514.5:c.-392A>T	ENSP00000426272.1:n.-392A>T
ENST00000510025.5:c.421A>T	ENSP00000424940.1:p.Ser141Cys
ENST00000512644.1:n.61A>T
ENST00000512841.5:n.541A>T
ENST00000513628.5:c.82A>T	ENSP00000425993.1:p.Ser28Cys
ENST00000515235.6:n.553A>T
ENST00000515320.5:c.439A>T	ENSP00000424613.1:p.Ser147Cys
NM_000414.3:c.493A>T	NP_000405.1:p.Ser165Cys
NM_001199291.2:c.568A>T	NP_001186220.1:p.Ser190Cys
NM_001199292.1:c.439A>T	NP_001186221.1:p.Ser147Cys
NM_001292027.1:c.421A>T	NP_001278956.1:p.Ser141Cys
NM_001292028.1:c.73A>T	NP_001278957.1:p.Ser25Cys
NM_000414.4:c.493A>T MANE Select	NP_000405.1:p.Ser165Cys
NM_001199291.3:c.568A>T	NP_001186220.1:p.Ser190Cys
NM_001199292.2:c.439A>T	NP_001186221.1:p.Ser147Cys
NM_001292027.2:c.421A>T	NP_001278956.1:p.Ser141Cys
NM_001292028.2:c.73A>T	NP_001278957.1:p.Ser25Cys
NM_001374497.1:c.484A>T	NP_001361426.1:p.Ser162Cys
NM_001374498.1:c.493A>T	NP_001361427.1:p.Ser165Cys
NM_001374499.1:c.166A>T	NP_001361428.1:p.Ser56Cys
NM_001374500.1:c.52A>T	NP_001361429.1:p.Ser18Cys
NM_001374501.1:c.82A>T	NP_001361430.1:p.Ser28Cys
NM_001374502.1:c.82A>T	NP_001361431.1:p.Ser28Cys
NM_001374503.1:c.82A>T	NP_001361432.1:p.Ser28Cys
NR_164653.1:n.572A>T
NR_164654.1:n.760A>T