Canonical Allele Identifier: CA360866245

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814615T>C (hg19) ; chr5:g.119478920T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478920T>C , CM000667.2:g.119478920T>C	GRCh38
NC_000005.9:g.118814615T>C , CM000667.1:g.118814615T>C	GRCh37
NC_000005.8:g.118842514T>C	NCBI36
NG_008182.1:g.31468T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.521T>C	ENSP00000426272.2:p.Leu174Pro
ENST00000518349.6:c.113-17623T>C	ENSP00000507185.1:n.113-17623T>C
ENST00000682445.1:c.*402T>C	ENSP00000508061.1:n.*402T>C
ENST00000682531.1:n.622T>C
ENST00000682626.1:c.*27T>C	ENSP00000507857.1:n.*27T>C
ENST00000682996.1:c.521T>C	ENSP00000507792.1:p.Leu174Pro
ENST00000683265.1:n.614T>C
ENST00000683371.1:c.*651T>C	ENSP00000508376.1:n.*651T>C
ENST00000683390.1:n.2211T>C
ENST00000683549.1:n.442T>C
ENST00000683936.1:c.*406T>C	ENSP00000507721.1:n.*406T>C
ENST00000683974.1:n.603T>C
ENST00000683996.1:c.110T>C	ENSP00000507060.1:p.Leu37Pro
ENST00000684131.1:n.360T>C
ENST00000684160.1:c.*211T>C	ENSP00000507821.1:n.*211T>C
ENST00000684214.1:c.521T>C	ENSP00000508071.1:p.Leu174Pro
ENST00000414835.7:c.596T>C	ENSP00000411960.3:p.Leu199Pro
ENST00000510025.7:c.521T>C MANE Select	ENSP00000424940.3:p.Leu174Pro
ENST00000643250.1:c.*393T>C	ENSP00000494737.1:n.*393T>C
ENST00000644146.1:c.*99T>C	ENSP00000494808.1:n.*99T>C
ENST00000645099.1:c.80T>C	ENSP00000496091.1:p.Leu27Pro
ENST00000645702.1:c.110T>C	ENSP00000496432.1:p.Leu37Pro
ENST00000645832.1:c.*406T>C	ENSP00000494316.1:n.*406T>C
ENST00000646058.1:c.521T>C	ENSP00000493579.1:p.Leu174Pro
ENST00000646355.1:c.*527T>C	ENSP00000493801.1:n.*527T>C
ENST00000646554.1:c.*499T>C	ENSP00000494542.1:n.*499T>C
ENST00000647335.1:c.*488T>C	ENSP00000495180.1:n.*488T>C
ENST00000647342.1:c.*452T>C	ENSP00000494992.1:n.*452T>C
ENST00000256216.10:c.521T>C	ENSP00000256216.6:p.Leu174Pro
ENST00000414835.6:c.101T>C	ENSP00000411960.2:p.Leu34Pro
ENST00000442060.7:c.521T>C	ENSP00000390208.3:p.Leu174Pro
ENST00000503168.5:n.510T>C
ENST00000504811.5:c.596T>C	ENSP00000420914.1:p.Leu199Pro
ENST00000505181.5:n.224T>C
ENST00000508788.5:n.423T>C
ENST00000509514.5:c.-364T>C	ENSP00000426272.1:n.-364T>C
ENST00000510025.5:c.449T>C	ENSP00000424940.1:p.Leu150Pro
ENST00000512644.1:n.89T>C
ENST00000512841.5:n.569T>C
ENST00000513628.5:c.110T>C	ENSP00000425993.1:p.Leu37Pro
ENST00000515235.6:n.581T>C
ENST00000515320.5:c.467T>C	ENSP00000424613.1:p.Leu156Pro
NM_000414.3:c.521T>C	NP_000405.1:p.Leu174Pro
NM_001199291.2:c.596T>C	NP_001186220.1:p.Leu199Pro
NM_001199292.1:c.467T>C	NP_001186221.1:p.Leu156Pro
NM_001292027.1:c.449T>C	NP_001278956.1:p.Leu150Pro
NM_001292028.1:c.101T>C	NP_001278957.1:p.Leu34Pro
NM_000414.4:c.521T>C MANE Select	NP_000405.1:p.Leu174Pro
NM_001199291.3:c.596T>C	NP_001186220.1:p.Leu199Pro
NM_001199292.2:c.467T>C	NP_001186221.1:p.Leu156Pro
NM_001292027.2:c.449T>C	NP_001278956.1:p.Leu150Pro
NM_001292028.2:c.101T>C	NP_001278957.1:p.Leu34Pro
NM_001374497.1:c.512T>C	NP_001361426.1:p.Leu171Pro
NM_001374498.1:c.521T>C	NP_001361427.1:p.Leu174Pro
NM_001374499.1:c.194T>C	NP_001361428.1:p.Leu65Pro
NM_001374500.1:c.80T>C	NP_001361429.1:p.Leu27Pro
NM_001374501.1:c.110T>C	NP_001361430.1:p.Leu37Pro
NM_001374502.1:c.110T>C	NP_001361431.1:p.Leu37Pro
NM_001374503.1:c.110T>C	NP_001361432.1:p.Leu37Pro
NR_164653.1:n.600T>C
NR_164654.1:n.788T>C