Canonical Allele Identifier: CA360864960

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118811539T>C (hg19) ; chr5:g.119475844T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119475844T>C , CM000667.2:g.119475844T>C	GRCh38
NC_000005.9:g.118811539T>C , CM000667.1:g.118811539T>C	GRCh37
NC_000005.8:g.118839438T>C	NCBI36
NG_008182.1:g.28392T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.323T>C	ENSP00000426272.2:p.Phe108Ser
ENST00000518349.6:c.112+19476T>C	ENSP00000507185.1:n.112+19476T>C
ENST00000682445.1:c.*204T>C	ENSP00000508061.1:n.*204T>C
ENST00000682531.1:n.424T>C
ENST00000682626.1:c.377+117T>C	ENSP00000507857.1:n.377+117T>C
ENST00000682996.1:c.323T>C	ENSP00000507792.1:p.Phe108Ser
ENST00000683265.1:n.416T>C
ENST00000683371.1:c.*453T>C	ENSP00000508376.1:n.*453T>C
ENST00000683390.1:n.467T>C
ENST00000683936.1:c.*208T>C	ENSP00000507721.1:n.*208T>C
ENST00000683974.1:n.405T>C
ENST00000684160.1:c.398T>C	ENSP00000507821.1:p.Phe133Ser
ENST00000684214.1:c.323T>C	ENSP00000508071.1:p.Phe108Ser
ENST00000414835.7:c.398T>C	ENSP00000411960.3:p.Phe133Ser
ENST00000510025.7:c.323T>C MANE Select	ENSP00000424940.3:p.Phe108Ser
ENST00000643250.1:c.*204T>C	ENSP00000494737.1:n.*204T>C
ENST00000644146.1:c.323T>C	ENSP00000494808.1:p.Phe108Ser
ENST00000645832.1:c.*208T>C	ENSP00000494316.1:n.*208T>C
ENST00000646058.1:c.323T>C	ENSP00000493579.1:p.Phe108Ser
ENST00000646355.1:c.*329T>C	ENSP00000493801.1:n.*329T>C
ENST00000646554.1:c.*204T>C	ENSP00000494542.1:n.*204T>C
ENST00000646590.1:c.323T>C	ENSP00000494892.1:p.Phe108Ser
ENST00000647335.1:c.*290T>C	ENSP00000495180.1:n.*290T>C
ENST00000647342.1:c.*204T>C	ENSP00000494992.1:n.*204T>C
ENST00000256216.10:c.323T>C	ENSP00000256216.6:p.Phe108Ser
ENST00000414835.6:c.-89T>C	ENSP00000411960.2:n.-89T>C
ENST00000442060.7:c.323T>C	ENSP00000390208.3:p.Phe108Ser
ENST00000503168.5:n.312T>C
ENST00000504811.5:c.398T>C	ENSP00000420914.1:p.Phe133Ser
ENST00000507695.1:n.295T>C
ENST00000510025.5:c.251T>C	ENSP00000424940.1:p.Phe84Ser
ENST00000511186.5:n.454T>C
ENST00000512841.5:n.371T>C
ENST00000515235.6:n.383T>C
ENST00000515320.5:c.269T>C	ENSP00000424613.1:p.Phe90Ser
NM_000414.3:c.323T>C	NP_000405.1:p.Phe108Ser
NM_001199291.2:c.398T>C	NP_001186220.1:p.Phe133Ser
NM_001199292.1:c.269T>C	NP_001186221.1:p.Phe90Ser
NM_001292027.1:c.251T>C	NP_001278956.1:p.Phe84Ser
NM_001292028.1:c.-89T>C	NP_001278957.1:n.-89T>C
NM_000414.4:c.323T>C MANE Select	NP_000405.1:p.Phe108Ser
NM_001199291.3:c.398T>C	NP_001186220.1:p.Phe133Ser
NM_001199292.2:c.269T>C	NP_001186221.1:p.Phe90Ser
NM_001292027.2:c.251T>C	NP_001278956.1:p.Phe84Ser
NM_001292028.2:c.-89T>C	NP_001278957.1:n.-89T>C
NM_001374497.1:c.323T>C	NP_001361426.1:p.Phe108Ser
NM_001374498.1:c.323T>C	NP_001361427.1:p.Phe108Ser
NM_001374499.1:c.22+117T>C	NP_001361428.1:n.22+117T>C
NM_001374500.1:c.-216T>C	NP_001361429.1:n.-216T>C
NM_001374501.1:c.-89T>C	NP_001361430.1:n.-89T>C
NM_001374502.1:c.-89T>C	NP_001361431.1:n.-89T>C
NM_001374503.1:c.-89T>C	NP_001361432.1:n.-89T>C
NR_164653.1:n.402T>C
NR_164654.1:n.590T>C