Canonical Allele Identifier: CA360866434

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814707A>T (hg19) ; chr5:g.119479012A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119479012A>T , CM000667.2:g.119479012A>T	GRCh38
NC_000005.9:g.118814707A>T , CM000667.1:g.118814707A>T	GRCh37
NC_000005.8:g.118842606A>T	NCBI36
NG_008182.1:g.31560A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.613A>T	ENSP00000426272.2:p.Met205Leu
ENST00000518349.6:c.113-17531A>T	ENSP00000507185.1:n.113-17531A>T
ENST00000682445.1:c.*494A>T	ENSP00000508061.1:n.*494A>T
ENST00000682531.1:n.714A>T
ENST00000682626.1:c.*119A>T	ENSP00000507857.1:n.*119A>T
ENST00000682996.1:c.613A>T	ENSP00000507792.1:p.Met205Leu
ENST00000683265.1:n.706A>T
ENST00000683371.1:c.*743A>T	ENSP00000508376.1:n.*743A>T
ENST00000683390.1:n.2303A>T
ENST00000683549.1:n.534A>T
ENST00000683936.1:c.*498A>T	ENSP00000507721.1:n.*498A>T
ENST00000683974.1:n.695A>T
ENST00000683996.1:c.202A>T	ENSP00000507060.1:p.Met68Leu
ENST00000684131.1:n.452A>T
ENST00000684160.1:c.*303A>T	ENSP00000507821.1:n.*303A>T
ENST00000684214.1:c.613A>T	ENSP00000508071.1:p.Met205Leu
ENST00000414835.7:c.688A>T	ENSP00000411960.3:p.Met230Leu
ENST00000510025.7:c.613A>T MANE Select	ENSP00000424940.3:p.Met205Leu
ENST00000643250.1:c.*485A>T	ENSP00000494737.1:n.*485A>T
ENST00000644146.1:c.*191A>T	ENSP00000494808.1:n.*191A>T
ENST00000645099.1:c.172A>T	ENSP00000496091.1:p.Met58Leu
ENST00000645702.1:c.202A>T	ENSP00000496432.1:p.Met68Leu
ENST00000645832.1:c.*498A>T	ENSP00000494316.1:n.*498A>T
ENST00000646058.1:c.613A>T	ENSP00000493579.1:p.Met205Leu
ENST00000646355.1:c.*619A>T	ENSP00000493801.1:n.*619A>T
ENST00000646554.1:c.*591A>T	ENSP00000494542.1:n.*591A>T
ENST00000647335.1:c.*580A>T	ENSP00000495180.1:n.*580A>T
ENST00000647342.1:c.*544A>T	ENSP00000494992.1:n.*544A>T
ENST00000256216.10:c.613A>T	ENSP00000256216.6:p.Met205Leu
ENST00000414835.6:c.193A>T	ENSP00000411960.2:p.Met65Leu
ENST00000442060.7:c.613A>T	ENSP00000390208.3:p.Met205Leu
ENST00000504811.5:c.688A>T	ENSP00000420914.1:p.Met230Leu
ENST00000505181.5:n.316A>T
ENST00000509514.5:c.-272A>T	ENSP00000426272.1:n.-272A>T
ENST00000510025.5:c.541A>T	ENSP00000424940.1:p.Met181Leu
ENST00000512644.1:n.181A>T
ENST00000513628.5:c.202A>T	ENSP00000425993.1:p.Met68Leu
ENST00000515235.6:n.673A>T
ENST00000515320.5:c.559A>T	ENSP00000424613.1:p.Met187Leu
NM_000414.3:c.613A>T	NP_000405.1:p.Met205Leu
NM_001199291.2:c.688A>T	NP_001186220.1:p.Met230Leu
NM_001199292.1:c.559A>T	NP_001186221.1:p.Met187Leu
NM_001292027.1:c.541A>T	NP_001278956.1:p.Met181Leu
NM_001292028.1:c.193A>T	NP_001278957.1:p.Met65Leu
NM_000414.4:c.613A>T MANE Select	NP_000405.1:p.Met205Leu
NM_001199291.3:c.688A>T	NP_001186220.1:p.Met230Leu
NM_001199292.2:c.559A>T	NP_001186221.1:p.Met187Leu
NM_001292027.2:c.541A>T	NP_001278956.1:p.Met181Leu
NM_001292028.2:c.193A>T	NP_001278957.1:p.Met65Leu
NM_001374497.1:c.604A>T	NP_001361426.1:p.Met202Leu
NM_001374498.1:c.613A>T	NP_001361427.1:p.Met205Leu
NM_001374499.1:c.286A>T	NP_001361428.1:p.Met96Leu
NM_001374500.1:c.172A>T	NP_001361429.1:p.Met58Leu
NM_001374501.1:c.202A>T	NP_001361430.1:p.Met68Leu
NM_001374502.1:c.202A>T	NP_001361431.1:p.Met68Leu
NM_001374503.1:c.202A>T	NP_001361432.1:p.Met68Leu
NR_164653.1:n.692A>T
NR_164654.1:n.880A>T