Canonical Allele Identifier: CA360866440

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814709G>T (hg19) ; chr5:g.119479014G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119479014G>T , CM000667.2:g.119479014G>T	GRCh38
NC_000005.9:g.118814709G>T , CM000667.1:g.118814709G>T	GRCh37
NC_000005.8:g.118842608G>T	NCBI36
NG_008182.1:g.31562G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.615G>T	ENSP00000426272.2:p.Met205Ile
ENST00000518349.6:c.113-17529G>T	ENSP00000507185.1:n.113-17529G>T
ENST00000682445.1:c.*496G>T	ENSP00000508061.1:n.*496G>T
ENST00000682531.1:n.716G>T
ENST00000682626.1:c.*121G>T	ENSP00000507857.1:n.*121G>T
ENST00000682996.1:c.615G>T	ENSP00000507792.1:p.Met205Ile
ENST00000683265.1:n.708G>T
ENST00000683371.1:c.*745G>T	ENSP00000508376.1:n.*745G>T
ENST00000683390.1:n.2305G>T
ENST00000683549.1:n.536G>T
ENST00000683936.1:c.*500G>T	ENSP00000507721.1:n.*500G>T
ENST00000683974.1:n.697G>T
ENST00000683996.1:c.204G>T	ENSP00000507060.1:p.Met68Ile
ENST00000684131.1:n.454G>T
ENST00000684160.1:c.*305G>T	ENSP00000507821.1:n.*305G>T
ENST00000684214.1:c.615G>T	ENSP00000508071.1:p.Met205Ile
ENST00000414835.7:c.690G>T	ENSP00000411960.3:p.Met230Ile
ENST00000510025.7:c.615G>T MANE Select	ENSP00000424940.3:p.Met205Ile
ENST00000643250.1:c.*487G>T	ENSP00000494737.1:n.*487G>T
ENST00000644146.1:c.*193G>T	ENSP00000494808.1:n.*193G>T
ENST00000645099.1:c.174G>T	ENSP00000496091.1:p.Met58Ile
ENST00000645702.1:c.204G>T	ENSP00000496432.1:p.Met68Ile
ENST00000645832.1:c.*500G>T	ENSP00000494316.1:n.*500G>T
ENST00000646058.1:c.615G>T	ENSP00000493579.1:p.Met205Ile
ENST00000646355.1:c.*621G>T	ENSP00000493801.1:n.*621G>T
ENST00000646554.1:c.*593G>T	ENSP00000494542.1:n.*593G>T
ENST00000647335.1:c.*582G>T	ENSP00000495180.1:n.*582G>T
ENST00000647342.1:c.*546G>T	ENSP00000494992.1:n.*546G>T
ENST00000256216.10:c.615G>T	ENSP00000256216.6:p.Met205Ile
ENST00000414835.6:c.195G>T	ENSP00000411960.2:p.Met65Ile
ENST00000442060.7:c.615G>T	ENSP00000390208.3:p.Met205Ile
ENST00000504811.5:c.690G>T	ENSP00000420914.1:p.Met230Ile
ENST00000505181.5:n.318G>T
ENST00000509514.5:c.-270G>T	ENSP00000426272.1:n.-270G>T
ENST00000510025.5:c.543G>T	ENSP00000424940.1:p.Met181Ile
ENST00000512644.1:n.183G>T
ENST00000513628.5:c.204G>T	ENSP00000425993.1:p.Met68Ile
ENST00000515235.6:n.675G>T
ENST00000515320.5:c.561G>T	ENSP00000424613.1:p.Met187Ile
NM_000414.3:c.615G>T	NP_000405.1:p.Met205Ile
NM_001199291.2:c.690G>T	NP_001186220.1:p.Met230Ile
NM_001199292.1:c.561G>T	NP_001186221.1:p.Met187Ile
NM_001292027.1:c.543G>T	NP_001278956.1:p.Met181Ile
NM_001292028.1:c.195G>T	NP_001278957.1:p.Met65Ile
NM_000414.4:c.615G>T MANE Select	NP_000405.1:p.Met205Ile
NM_001199291.3:c.690G>T	NP_001186220.1:p.Met230Ile
NM_001199292.2:c.561G>T	NP_001186221.1:p.Met187Ile
NM_001292027.2:c.543G>T	NP_001278956.1:p.Met181Ile
NM_001292028.2:c.195G>T	NP_001278957.1:p.Met65Ile
NM_001374497.1:c.606G>T	NP_001361426.1:p.Met202Ile
NM_001374498.1:c.615G>T	NP_001361427.1:p.Met205Ile
NM_001374499.1:c.288G>T	NP_001361428.1:p.Met96Ile
NM_001374500.1:c.174G>T	NP_001361429.1:p.Met58Ile
NM_001374501.1:c.204G>T	NP_001361430.1:p.Met68Ile
NM_001374502.1:c.204G>T	NP_001361431.1:p.Met68Ile
NM_001374503.1:c.204G>T	NP_001361432.1:p.Met68Ile
NR_164653.1:n.694G>T
NR_164654.1:n.882G>T