Canonical Allele Identifier: CA360871123

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118867021G>C (hg19) ; chr5:g.119531326G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119531326G>C , CM000667.2:g.119531326G>C	GRCh38
NC_000005.9:g.118867021G>C , CM000667.1:g.118867021G>C	GRCh37
NC_000005.8:g.118894920G>C	NCBI36
NG_008182.1:g.83874G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.1846G>C	ENSP00000426272.2:p.Gly616Arg
ENST00000518349.6:c.1159G>C	ENSP00000507185.1:p.Gly387Arg
ENST00000682445.1:c.*1796G>C	ENSP00000508061.1:n.*1796G>C
ENST00000682531.1:n.3807G>C
ENST00000682626.1:c.*1421G>C	ENSP00000507857.1:n.*1421G>C
ENST00000682996.1:c.1843G>C	ENSP00000507792.1:p.Gly615Arg
ENST00000683265.1:n.3701G>C
ENST00000683335.1:n.3317G>C
ENST00000683371.1:c.*2045G>C	ENSP00000508376.1:n.*2045G>C
ENST00000683372.1:n.3925G>C
ENST00000683390.1:n.3605G>C
ENST00000683476.1:n.757G>C
ENST00000683549.1:n.3529G>C
ENST00000683936.1:c.*3493G>C	ENSP00000507721.1:n.*3493G>C
ENST00000683974.1:n.3644G>C
ENST00000683996.1:c.*1125G>C	ENSP00000507060.1:n.*1125G>C
ENST00000684131.1:n.3447G>C
ENST00000684160.1:c.*1605G>C	ENSP00000507821.1:n.*1605G>C
ENST00000684214.1:c.1854+1346G>C	ENSP00000508071.1:n.1854+1346G>C
ENST00000414835.7:c.1990G>C	ENSP00000411960.3:p.Gly664Arg
ENST00000510025.7:c.1915G>C MANE Select	ENSP00000424940.3:p.Gly639Arg
ENST00000643250.1:c.*1787G>C	ENSP00000494737.1:n.*1787G>C
ENST00000644146.1:c.*3186G>C	ENSP00000494808.1:n.*3186G>C
ENST00000645099.1:c.1474G>C	ENSP00000496091.1:p.Gly492Arg
ENST00000645702.1:c.*1318G>C	ENSP00000496432.1:n.*1318G>C
ENST00000645832.1:c.*1800G>C	ENSP00000494316.1:n.*1800G>C
ENST00000646058.1:c.1915G>C	ENSP00000493579.1:p.Gly639Arg
ENST00000646355.1:c.*1921G>C	ENSP00000493801.1:n.*1921G>C
ENST00000646554.1:c.*1893G>C	ENSP00000494542.1:n.*1893G>C
ENST00000647335.1:c.*1882G>C	ENSP00000495180.1:n.*1882G>C
ENST00000647342.1:c.*1846G>C	ENSP00000494992.1:n.*1846G>C
ENST00000256216.10:c.1915G>C	ENSP00000256216.6:p.Gly639Arg
ENST00000414835.6:c.1495G>C	ENSP00000411960.2:p.Gly499Arg
ENST00000442060.7:c.*470G>C	ENSP00000390208.3:n.*470G>C
ENST00000504811.5:c.1990G>C	ENSP00000420914.1:p.Gly664Arg
ENST00000509514.5:c.1129G>C	ENSP00000426272.1:p.Gly377Arg
ENST00000509606.1:n.210G>C
ENST00000509951.5:n.309+1346G>C
ENST00000510025.5:c.1843G>C	ENSP00000424940.1:p.Gly615Arg
ENST00000513628.5:c.1504G>C	ENSP00000425993.1:p.Gly502Arg
ENST00000515235.6:n.3668G>C
ENST00000515320.5:c.1861G>C	ENSP00000424613.1:p.Gly621Arg
ENST00000522415.5:n.582G>C
NM_000414.3:c.1915G>C	NP_000405.1:p.Gly639Arg
NM_001199291.2:c.1990G>C	NP_001186220.1:p.Gly664Arg
NM_001199292.1:c.1861G>C	NP_001186221.1:p.Gly621Arg
NM_001292027.1:c.1843G>C	NP_001278956.1:p.Gly615Arg
NM_001292028.1:c.1495G>C	NP_001278957.1:p.Gly499Arg
NM_000414.4:c.1915G>C MANE Select	NP_000405.1:p.Gly639Arg
NM_001199291.3:c.1990G>C	NP_001186220.1:p.Gly664Arg
NM_001199292.2:c.1861G>C	NP_001186221.1:p.Gly621Arg
NM_001292027.2:c.1843G>C	NP_001278956.1:p.Gly615Arg
NM_001292028.2:c.1495G>C	NP_001278957.1:p.Gly499Arg
NM_001374497.1:c.1906G>C	NP_001361426.1:p.Gly636Arg
NM_001374498.1:c.1843G>C	NP_001361427.1:p.Gly615Arg
NM_001374499.1:c.1588G>C	NP_001361428.1:p.Gly530Arg
NM_001374500.1:c.1474G>C	NP_001361429.1:p.Gly492Arg
NM_001374501.1:c.1504G>C	NP_001361430.1:p.Gly502Arg
NM_001374502.1:c.1504G>C	NP_001361431.1:p.Gly502Arg
NM_001374503.1:c.1504G>C	NP_001361432.1:p.Gly502Arg
NR_164653.1:n.2012G>C
NR_164654.1:n.2280G>C