Canonical Allele Identifier: CA360866410

Gene: HSD17B4

Linked Data

• gnomAD v4: 5-119479000-A-G
• MyVariant Identifiers: chr5:g.118814695A>G (hg19) ; chr5:g.119479000A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119479000A>G , CM000667.2:g.119479000A>G	GRCh38
NC_000005.9:g.118814695A>G , CM000667.1:g.118814695A>G	GRCh37
NC_000005.8:g.118842594A>G	NCBI36
NG_008182.1:g.31548A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.601A>G	ENSP00000426272.2:p.Thr201Ala
ENST00000518349.6:c.113-17543A>G	ENSP00000507185.1:n.113-17543A>G
ENST00000682445.1:c.*482A>G	ENSP00000508061.1:n.*482A>G
ENST00000682531.1:n.702A>G
ENST00000682626.1:c.*107A>G	ENSP00000507857.1:n.*107A>G
ENST00000682996.1:c.601A>G	ENSP00000507792.1:p.Thr201Ala
ENST00000683265.1:n.694A>G
ENST00000683371.1:c.*731A>G	ENSP00000508376.1:n.*731A>G
ENST00000683390.1:n.2291A>G
ENST00000683549.1:n.522A>G
ENST00000683936.1:c.*486A>G	ENSP00000507721.1:n.*486A>G
ENST00000683974.1:n.683A>G
ENST00000683996.1:c.190A>G	ENSP00000507060.1:p.Thr64Ala
ENST00000684131.1:n.440A>G
ENST00000684160.1:c.*291A>G	ENSP00000507821.1:n.*291A>G
ENST00000684214.1:c.601A>G	ENSP00000508071.1:p.Thr201Ala
ENST00000414835.7:c.676A>G	ENSP00000411960.3:p.Thr226Ala
ENST00000510025.7:c.601A>G MANE Select	ENSP00000424940.3:p.Thr201Ala
ENST00000643250.1:c.*473A>G	ENSP00000494737.1:n.*473A>G
ENST00000644146.1:c.*179A>G	ENSP00000494808.1:n.*179A>G
ENST00000645099.1:c.160A>G	ENSP00000496091.1:p.Thr54Ala
ENST00000645702.1:c.190A>G	ENSP00000496432.1:p.Thr64Ala
ENST00000645832.1:c.*486A>G	ENSP00000494316.1:n.*486A>G
ENST00000646058.1:c.601A>G	ENSP00000493579.1:p.Thr201Ala
ENST00000646355.1:c.*607A>G	ENSP00000493801.1:n.*607A>G
ENST00000646554.1:c.*579A>G	ENSP00000494542.1:n.*579A>G
ENST00000647335.1:c.*568A>G	ENSP00000495180.1:n.*568A>G
ENST00000647342.1:c.*532A>G	ENSP00000494992.1:n.*532A>G
ENST00000256216.10:c.601A>G	ENSP00000256216.6:p.Thr201Ala
ENST00000414835.6:c.181A>G	ENSP00000411960.2:p.Thr61Ala
ENST00000442060.7:c.601A>G	ENSP00000390208.3:p.Thr201Ala
ENST00000504811.5:c.676A>G	ENSP00000420914.1:p.Thr226Ala
ENST00000505181.5:n.304A>G
ENST00000509514.5:c.-284A>G	ENSP00000426272.1:n.-284A>G
ENST00000510025.5:c.529A>G	ENSP00000424940.1:p.Thr177Ala
ENST00000512644.1:n.169A>G
ENST00000513628.5:c.190A>G	ENSP00000425993.1:p.Thr64Ala
ENST00000515235.6:n.661A>G
ENST00000515320.5:c.547A>G	ENSP00000424613.1:p.Thr183Ala
NM_000414.3:c.601A>G	NP_000405.1:p.Thr201Ala
NM_001199291.2:c.676A>G	NP_001186220.1:p.Thr226Ala
NM_001199292.1:c.547A>G	NP_001186221.1:p.Thr183Ala
NM_001292027.1:c.529A>G	NP_001278956.1:p.Thr177Ala
NM_001292028.1:c.181A>G	NP_001278957.1:p.Thr61Ala
NM_000414.4:c.601A>G MANE Select	NP_000405.1:p.Thr201Ala
NM_001199291.3:c.676A>G	NP_001186220.1:p.Thr226Ala
NM_001199292.2:c.547A>G	NP_001186221.1:p.Thr183Ala
NM_001292027.2:c.529A>G	NP_001278956.1:p.Thr177Ala
NM_001292028.2:c.181A>G	NP_001278957.1:p.Thr61Ala
NM_001374497.1:c.592A>G	NP_001361426.1:p.Thr198Ala
NM_001374498.1:c.601A>G	NP_001361427.1:p.Thr201Ala
NM_001374499.1:c.274A>G	NP_001361428.1:p.Thr92Ala
NM_001374500.1:c.160A>G	NP_001361429.1:p.Thr54Ala
NM_001374501.1:c.190A>G	NP_001361430.1:p.Thr64Ala
NM_001374502.1:c.190A>G	NP_001361431.1:p.Thr64Ala
NM_001374503.1:c.190A>G	NP_001361432.1:p.Thr64Ala
NR_164653.1:n.680A>G
NR_164654.1:n.868A>G