Canonical Allele Identifier: CA360866221

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814602G>T (hg19) ; chr5:g.119478907G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478907G>T , CM000667.2:g.119478907G>T	GRCh38
NC_000005.9:g.118814602G>T , CM000667.1:g.118814602G>T	GRCh37
NC_000005.8:g.118842501G>T	NCBI36
NG_008182.1:g.31455G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.508G>T	ENSP00000426272.2:p.Gly170Cys
ENST00000518349.6:c.113-17636G>T	ENSP00000507185.1:n.113-17636G>T
ENST00000682445.1:c.*389G>T	ENSP00000508061.1:n.*389G>T
ENST00000682531.1:n.609G>T
ENST00000682626.1:c.*14G>T	ENSP00000507857.1:n.*14G>T
ENST00000682996.1:c.508G>T	ENSP00000507792.1:p.Gly170Cys
ENST00000683265.1:n.601G>T
ENST00000683371.1:c.*638G>T	ENSP00000508376.1:n.*638G>T
ENST00000683390.1:n.2198G>T
ENST00000683549.1:n.429G>T
ENST00000683936.1:c.*393G>T	ENSP00000507721.1:n.*393G>T
ENST00000683974.1:n.590G>T
ENST00000683996.1:c.97G>T	ENSP00000507060.1:p.Gly33Cys
ENST00000684131.1:n.347G>T
ENST00000684160.1:c.*198G>T	ENSP00000507821.1:n.*198G>T
ENST00000684214.1:c.508G>T	ENSP00000508071.1:p.Gly170Cys
ENST00000414835.7:c.583G>T	ENSP00000411960.3:p.Gly195Cys
ENST00000510025.7:c.508G>T MANE Select	ENSP00000424940.3:p.Gly170Cys
ENST00000643250.1:c.*380G>T	ENSP00000494737.1:n.*380G>T
ENST00000644146.1:c.*86G>T	ENSP00000494808.1:n.*86G>T
ENST00000645099.1:c.67G>T	ENSP00000496091.1:p.Gly23Cys
ENST00000645702.1:c.97G>T	ENSP00000496432.1:p.Gly33Cys
ENST00000645832.1:c.*393G>T	ENSP00000494316.1:n.*393G>T
ENST00000646058.1:c.508G>T	ENSP00000493579.1:p.Gly170Cys
ENST00000646355.1:c.*514G>T	ENSP00000493801.1:n.*514G>T
ENST00000646554.1:c.*486G>T	ENSP00000494542.1:n.*486G>T
ENST00000647335.1:c.*475G>T	ENSP00000495180.1:n.*475G>T
ENST00000647342.1:c.*439G>T	ENSP00000494992.1:n.*439G>T
ENST00000256216.10:c.508G>T	ENSP00000256216.6:p.Gly170Cys
ENST00000414835.6:c.88G>T	ENSP00000411960.2:p.Gly30Cys
ENST00000442060.7:c.508G>T	ENSP00000390208.3:p.Gly170Cys
ENST00000503168.5:n.497G>T
ENST00000504811.5:c.583G>T	ENSP00000420914.1:p.Gly195Cys
ENST00000505181.5:n.211G>T
ENST00000508788.5:n.410G>T
ENST00000509514.5:c.-377G>T	ENSP00000426272.1:n.-377G>T
ENST00000510025.5:c.436G>T	ENSP00000424940.1:p.Gly146Cys
ENST00000512644.1:n.76G>T
ENST00000512841.5:n.556G>T
ENST00000513628.5:c.97G>T	ENSP00000425993.1:p.Gly33Cys
ENST00000515235.6:n.568G>T
ENST00000515320.5:c.454G>T	ENSP00000424613.1:p.Gly152Cys
NM_000414.3:c.508G>T	NP_000405.1:p.Gly170Cys
NM_001199291.2:c.583G>T	NP_001186220.1:p.Gly195Cys
NM_001199292.1:c.454G>T	NP_001186221.1:p.Gly152Cys
NM_001292027.1:c.436G>T	NP_001278956.1:p.Gly146Cys
NM_001292028.1:c.88G>T	NP_001278957.1:p.Gly30Cys
NM_000414.4:c.508G>T MANE Select	NP_000405.1:p.Gly170Cys
NM_001199291.3:c.583G>T	NP_001186220.1:p.Gly195Cys
NM_001199292.2:c.454G>T	NP_001186221.1:p.Gly152Cys
NM_001292027.2:c.436G>T	NP_001278956.1:p.Gly146Cys
NM_001292028.2:c.88G>T	NP_001278957.1:p.Gly30Cys
NM_001374497.1:c.499G>T	NP_001361426.1:p.Gly167Cys
NM_001374498.1:c.508G>T	NP_001361427.1:p.Gly170Cys
NM_001374499.1:c.181G>T	NP_001361428.1:p.Gly61Cys
NM_001374500.1:c.67G>T	NP_001361429.1:p.Gly23Cys
NM_001374501.1:c.97G>T	NP_001361430.1:p.Gly33Cys
NM_001374502.1:c.97G>T	NP_001361431.1:p.Gly33Cys
NM_001374503.1:c.97G>T	NP_001361432.1:p.Gly33Cys
NR_164653.1:n.587G>T
NR_164654.1:n.775G>T