Canonical Allele Identifier: CA446041485

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814607T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478912T>C , CM000667.2:g.119478912T>C	GRCh38
NC_000005.9:g.118814607T>C , CM000667.1:g.118814607T>C	GRCh37
NC_000005.8:g.118842506T>C	NCBI36
NG_008182.1:g.31460T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.513T>C	ENSP00000426272.2:p.Leu171=
ENST00000518349.6:c.113-17631T>C	ENSP00000507185.1:n.113-17631T>C
ENST00000682445.1:c.*394T>C	ENSP00000508061.1:n.*394T>C
ENST00000682531.1:n.614T>C
ENST00000682626.1:c.*19T>C	ENSP00000507857.1:n.*19T>C
ENST00000682996.1:c.513T>C	ENSP00000507792.1:p.Leu171=
ENST00000683265.1:n.606T>C
ENST00000683371.1:c.*643T>C	ENSP00000508376.1:n.*643T>C
ENST00000683390.1:n.2203T>C
ENST00000683549.1:n.434T>C
ENST00000683936.1:c.*398T>C	ENSP00000507721.1:n.*398T>C
ENST00000683974.1:n.595T>C
ENST00000683996.1:c.102T>C	ENSP00000507060.1:p.Leu34=
ENST00000684131.1:n.352T>C
ENST00000684160.1:c.*203T>C	ENSP00000507821.1:n.*203T>C
ENST00000684214.1:c.513T>C	ENSP00000508071.1:p.Leu171=
ENST00000414835.7:c.588T>C	ENSP00000411960.3:p.Leu196=
ENST00000510025.7:c.513T>C MANE Select	ENSP00000424940.3:p.Leu171=
ENST00000643250.1:c.*385T>C	ENSP00000494737.1:n.*385T>C
ENST00000644146.1:c.*91T>C	ENSP00000494808.1:n.*91T>C
ENST00000645099.1:c.72T>C	ENSP00000496091.1:p.Leu24=
ENST00000645702.1:c.102T>C	ENSP00000496432.1:p.Leu34=
ENST00000645832.1:c.*398T>C	ENSP00000494316.1:n.*398T>C
ENST00000646058.1:c.513T>C	ENSP00000493579.1:p.Leu171=
ENST00000646355.1:c.*519T>C	ENSP00000493801.1:n.*519T>C
ENST00000646554.1:c.*491T>C	ENSP00000494542.1:n.*491T>C
ENST00000647335.1:c.*480T>C	ENSP00000495180.1:n.*480T>C
ENST00000647342.1:c.*444T>C	ENSP00000494992.1:n.*444T>C
ENST00000256216.10:c.513T>C	ENSP00000256216.6:p.Leu171=
ENST00000414835.6:c.93T>C	ENSP00000411960.2:p.Leu31=
ENST00000442060.7:c.513T>C	ENSP00000390208.3:p.Leu171=
ENST00000503168.5:n.502T>C
ENST00000504811.5:c.588T>C	ENSP00000420914.1:p.Leu196=
ENST00000505181.5:n.216T>C
ENST00000508788.5:n.415T>C
ENST00000509514.5:c.-372T>C	ENSP00000426272.1:n.-372T>C
ENST00000510025.5:c.441T>C	ENSP00000424940.1:p.Leu147=
ENST00000512644.1:n.81T>C
ENST00000512841.5:n.561T>C
ENST00000513628.5:c.102T>C	ENSP00000425993.1:p.Leu34=
ENST00000515235.6:n.573T>C
ENST00000515320.5:c.459T>C	ENSP00000424613.1:p.Leu153=
NM_000414.3:c.513T>C	NP_000405.1:p.Leu171=
NM_001199291.2:c.588T>C	NP_001186220.1:p.Leu196=
NM_001199292.1:c.459T>C	NP_001186221.1:p.Leu153=
NM_001292027.1:c.441T>C	NP_001278956.1:p.Leu147=
NM_001292028.1:c.93T>C	NP_001278957.1:p.Leu31=
NM_000414.4:c.513T>C MANE Select	NP_000405.1:p.Leu171=
NM_001199291.3:c.588T>C	NP_001186220.1:p.Leu196=
NM_001199292.2:c.459T>C	NP_001186221.1:p.Leu153=
NM_001292027.2:c.441T>C	NP_001278956.1:p.Leu147=
NM_001292028.2:c.93T>C	NP_001278957.1:p.Leu31=
NM_001374497.1:c.504T>C	NP_001361426.1:p.Leu168=
NM_001374498.1:c.513T>C	NP_001361427.1:p.Leu171=
NM_001374499.1:c.186T>C	NP_001361428.1:p.Leu62=
NM_001374500.1:c.72T>C	NP_001361429.1:p.Leu24=
NM_001374501.1:c.102T>C	NP_001361430.1:p.Leu34=
NM_001374502.1:c.102T>C	NP_001361431.1:p.Leu34=
NM_001374503.1:c.102T>C	NP_001361432.1:p.Leu34=
NR_164653.1:n.592T>C
NR_164654.1:n.780T>C