Canonical Allele Identifier: CA360866402

Gene: HSD17B4

Linked Data

• gnomAD v4: 5-119478997-A-T
• MyVariant Identifiers: chr5:g.118814692A>T (hg19) ; chr5:g.119478997A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478997A>T , CM000667.2:g.119478997A>T	GRCh38
NC_000005.9:g.118814692A>T , CM000667.1:g.118814692A>T	GRCh37
NC_000005.8:g.118842591A>T	NCBI36
NG_008182.1:g.31545A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.598A>T	ENSP00000426272.2:p.Met200Leu
ENST00000518349.6:c.113-17546A>T	ENSP00000507185.1:n.113-17546A>T
ENST00000682445.1:c.*479A>T	ENSP00000508061.1:n.*479A>T
ENST00000682531.1:n.699A>T
ENST00000682626.1:c.*104A>T	ENSP00000507857.1:n.*104A>T
ENST00000682996.1:c.598A>T	ENSP00000507792.1:p.Met200Leu
ENST00000683265.1:n.691A>T
ENST00000683371.1:c.*728A>T	ENSP00000508376.1:n.*728A>T
ENST00000683390.1:n.2288A>T
ENST00000683549.1:n.519A>T
ENST00000683936.1:c.*483A>T	ENSP00000507721.1:n.*483A>T
ENST00000683974.1:n.680A>T
ENST00000683996.1:c.187A>T	ENSP00000507060.1:p.Met63Leu
ENST00000684131.1:n.437A>T
ENST00000684160.1:c.*288A>T	ENSP00000507821.1:n.*288A>T
ENST00000684214.1:c.598A>T	ENSP00000508071.1:p.Met200Leu
ENST00000414835.7:c.673A>T	ENSP00000411960.3:p.Met225Leu
ENST00000510025.7:c.598A>T MANE Select	ENSP00000424940.3:p.Met200Leu
ENST00000643250.1:c.*470A>T	ENSP00000494737.1:n.*470A>T
ENST00000644146.1:c.*176A>T	ENSP00000494808.1:n.*176A>T
ENST00000645099.1:c.157A>T	ENSP00000496091.1:p.Met53Leu
ENST00000645702.1:c.187A>T	ENSP00000496432.1:p.Met63Leu
ENST00000645832.1:c.*483A>T	ENSP00000494316.1:n.*483A>T
ENST00000646058.1:c.598A>T	ENSP00000493579.1:p.Met200Leu
ENST00000646355.1:c.*604A>T	ENSP00000493801.1:n.*604A>T
ENST00000646554.1:c.*576A>T	ENSP00000494542.1:n.*576A>T
ENST00000647335.1:c.*565A>T	ENSP00000495180.1:n.*565A>T
ENST00000647342.1:c.*529A>T	ENSP00000494992.1:n.*529A>T
ENST00000256216.10:c.598A>T	ENSP00000256216.6:p.Met200Leu
ENST00000414835.6:c.178A>T	ENSP00000411960.2:p.Met60Leu
ENST00000442060.7:c.598A>T	ENSP00000390208.3:p.Met200Leu
ENST00000503168.5:n.587A>T
ENST00000504811.5:c.673A>T	ENSP00000420914.1:p.Met225Leu
ENST00000505181.5:n.301A>T
ENST00000509514.5:c.-287A>T	ENSP00000426272.1:n.-287A>T
ENST00000510025.5:c.526A>T	ENSP00000424940.1:p.Met176Leu
ENST00000512644.1:n.166A>T
ENST00000513628.5:c.187A>T	ENSP00000425993.1:p.Met63Leu
ENST00000515235.6:n.658A>T
ENST00000515320.5:c.544A>T	ENSP00000424613.1:p.Met182Leu
NM_000414.3:c.598A>T	NP_000405.1:p.Met200Leu
NM_001199291.2:c.673A>T	NP_001186220.1:p.Met225Leu
NM_001199292.1:c.544A>T	NP_001186221.1:p.Met182Leu
NM_001292027.1:c.526A>T	NP_001278956.1:p.Met176Leu
NM_001292028.1:c.178A>T	NP_001278957.1:p.Met60Leu
NM_000414.4:c.598A>T MANE Select	NP_000405.1:p.Met200Leu
NM_001199291.3:c.673A>T	NP_001186220.1:p.Met225Leu
NM_001199292.2:c.544A>T	NP_001186221.1:p.Met182Leu
NM_001292027.2:c.526A>T	NP_001278956.1:p.Met176Leu
NM_001292028.2:c.178A>T	NP_001278957.1:p.Met60Leu
NM_001374497.1:c.589A>T	NP_001361426.1:p.Met197Leu
NM_001374498.1:c.598A>T	NP_001361427.1:p.Met200Leu
NM_001374499.1:c.271A>T	NP_001361428.1:p.Met91Leu
NM_001374500.1:c.157A>T	NP_001361429.1:p.Met53Leu
NM_001374501.1:c.187A>T	NP_001361430.1:p.Met63Leu
NM_001374502.1:c.187A>T	NP_001361431.1:p.Met63Leu
NM_001374503.1:c.187A>T	NP_001361432.1:p.Met63Leu
NR_164653.1:n.677A>T
NR_164654.1:n.865A>T