Canonical Allele Identifier: CA360866189

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814588G>T (hg19) ; chr5:g.119478893G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478893G>T , CM000667.2:g.119478893G>T	GRCh38
NC_000005.9:g.118814588G>T , CM000667.1:g.118814588G>T	GRCh37
NC_000005.8:g.118842487G>T	NCBI36
NG_008182.1:g.31441G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.494G>T	ENSP00000426272.2:p.Ser165Ile
ENST00000518349.6:c.113-17650G>T	ENSP00000507185.1:n.113-17650G>T
ENST00000682445.1:c.*375G>T	ENSP00000508061.1:n.*375G>T
ENST00000682531.1:n.595G>T
ENST00000682626.1:c.522G>T	ENSP00000507857.1:p.Ter174Tyr
ENST00000682996.1:c.494G>T	ENSP00000507792.1:p.Ser165Ile
ENST00000683265.1:n.587G>T
ENST00000683371.1:c.*624G>T	ENSP00000508376.1:n.*624G>T
ENST00000683390.1:n.2184G>T
ENST00000683549.1:n.415G>T
ENST00000683936.1:c.*379G>T	ENSP00000507721.1:n.*379G>T
ENST00000683974.1:n.576G>T
ENST00000683996.1:c.83G>T	ENSP00000507060.1:p.Ser28Ile
ENST00000684131.1:n.333G>T
ENST00000684160.1:c.*184G>T	ENSP00000507821.1:n.*184G>T
ENST00000684214.1:c.494G>T	ENSP00000508071.1:p.Ser165Ile
ENST00000414835.7:c.569G>T	ENSP00000411960.3:p.Ser190Ile
ENST00000510025.7:c.494G>T MANE Select	ENSP00000424940.3:p.Ser165Ile
ENST00000643250.1:c.*366G>T	ENSP00000494737.1:n.*366G>T
ENST00000644146.1:c.*72G>T	ENSP00000494808.1:n.*72G>T
ENST00000645099.1:c.53G>T	ENSP00000496091.1:p.Ser18Ile
ENST00000645702.1:c.83G>T	ENSP00000496432.1:p.Ser28Ile
ENST00000645832.1:c.*379G>T	ENSP00000494316.1:n.*379G>T
ENST00000646058.1:c.494G>T	ENSP00000493579.1:p.Ser165Ile
ENST00000646355.1:c.*500G>T	ENSP00000493801.1:n.*500G>T
ENST00000646554.1:c.*472G>T	ENSP00000494542.1:n.*472G>T
ENST00000646590.1:c.485G>T	ENSP00000494892.1:p.Ser162Ile
ENST00000647335.1:c.*461G>T	ENSP00000495180.1:n.*461G>T
ENST00000647342.1:c.*425G>T	ENSP00000494992.1:n.*425G>T
ENST00000256216.10:c.494G>T	ENSP00000256216.6:p.Ser165Ile
ENST00000414835.6:c.74G>T	ENSP00000411960.2:p.Ser25Ile
ENST00000442060.7:c.494G>T	ENSP00000390208.3:p.Ser165Ile
ENST00000503168.5:n.483G>T
ENST00000504811.5:c.569G>T	ENSP00000420914.1:p.Ser190Ile
ENST00000505181.5:n.197G>T
ENST00000508788.5:n.396G>T
ENST00000509514.5:c.-391G>T	ENSP00000426272.1:n.-391G>T
ENST00000510025.5:c.422G>T	ENSP00000424940.1:p.Ser141Ile
ENST00000512644.1:n.62G>T
ENST00000512841.5:n.542G>T
ENST00000513628.5:c.83G>T	ENSP00000425993.1:p.Ser28Ile
ENST00000515235.6:n.554G>T
ENST00000515320.5:c.440G>T	ENSP00000424613.1:p.Ser147Ile
NM_000414.3:c.494G>T	NP_000405.1:p.Ser165Ile
NM_001199291.2:c.569G>T	NP_001186220.1:p.Ser190Ile
NM_001199292.1:c.440G>T	NP_001186221.1:p.Ser147Ile
NM_001292027.1:c.422G>T	NP_001278956.1:p.Ser141Ile
NM_001292028.1:c.74G>T	NP_001278957.1:p.Ser25Ile
NM_000414.4:c.494G>T MANE Select	NP_000405.1:p.Ser165Ile
NM_001199291.3:c.569G>T	NP_001186220.1:p.Ser190Ile
NM_001199292.2:c.440G>T	NP_001186221.1:p.Ser147Ile
NM_001292027.2:c.422G>T	NP_001278956.1:p.Ser141Ile
NM_001292028.2:c.74G>T	NP_001278957.1:p.Ser25Ile
NM_001374497.1:c.485G>T	NP_001361426.1:p.Ser162Ile
NM_001374498.1:c.494G>T	NP_001361427.1:p.Ser165Ile
NM_001374499.1:c.167G>T	NP_001361428.1:p.Ser56Ile
NM_001374500.1:c.53G>T	NP_001361429.1:p.Ser18Ile
NM_001374501.1:c.83G>T	NP_001361430.1:p.Ser28Ile
NM_001374502.1:c.83G>T	NP_001361431.1:p.Ser28Ile
NM_001374503.1:c.83G>T	NP_001361432.1:p.Ser28Ile
NR_164653.1:n.573G>T
NR_164654.1:n.761G>T