Canonical Allele Identifier: CA360866072

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814537T>C (hg19) ; chr5:g.119478842T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478842T>C , CM000667.2:g.119478842T>C	GRCh38
NC_000005.9:g.118814537T>C , CM000667.1:g.118814537T>C	GRCh37
NC_000005.8:g.118842436T>C	NCBI36
NG_008182.1:g.31390T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.443T>C	ENSP00000426272.2:p.Met148Thr
ENST00000518349.6:c.113-17701T>C	ENSP00000507185.1:n.113-17701T>C
ENST00000682445.1:c.*324T>C	ENSP00000508061.1:n.*324T>C
ENST00000682531.1:n.544T>C
ENST00000682626.1:c.471T>C	ENSP00000507857.1:p.Tyr157=
ENST00000682996.1:c.443T>C	ENSP00000507792.1:p.Met148Thr
ENST00000683265.1:n.536T>C
ENST00000683371.1:c.*573T>C	ENSP00000508376.1:n.*573T>C
ENST00000683390.1:n.2133T>C
ENST00000683549.1:n.364T>C
ENST00000683936.1:c.*328T>C	ENSP00000507721.1:n.*328T>C
ENST00000683974.1:n.525T>C
ENST00000683996.1:c.32T>C	ENSP00000507060.1:p.Met11Thr
ENST00000684131.1:n.282T>C
ENST00000684160.1:c.*133T>C	ENSP00000507821.1:n.*133T>C
ENST00000684214.1:c.443T>C	ENSP00000508071.1:p.Met148Thr
ENST00000414835.7:c.518T>C	ENSP00000411960.3:p.Met173Thr
ENST00000510025.7:c.443T>C MANE Select	ENSP00000424940.3:p.Met148Thr
ENST00000643250.1:c.*315T>C	ENSP00000494737.1:n.*315T>C
ENST00000644146.1:c.*21T>C	ENSP00000494808.1:n.*21T>C
ENST00000645099.1:c.2T>C	ENSP00000496091.1:p.Met1Thr
ENST00000645702.1:c.32T>C	ENSP00000496432.1:p.Met11Thr
ENST00000645832.1:c.*328T>C	ENSP00000494316.1:n.*328T>C
ENST00000646058.1:c.443T>C	ENSP00000493579.1:p.Met148Thr
ENST00000646355.1:c.*449T>C	ENSP00000493801.1:n.*449T>C
ENST00000646554.1:c.*421T>C	ENSP00000494542.1:n.*421T>C
ENST00000646590.1:c.434T>C	ENSP00000494892.1:p.Met145Thr
ENST00000647335.1:c.*410T>C	ENSP00000495180.1:n.*410T>C
ENST00000647342.1:c.*374T>C	ENSP00000494992.1:n.*374T>C
ENST00000256216.10:c.443T>C	ENSP00000256216.6:p.Met148Thr
ENST00000414835.6:c.23T>C	ENSP00000411960.2:p.Met8Thr
ENST00000442060.7:c.443T>C	ENSP00000390208.3:p.Met148Thr
ENST00000503168.5:n.432T>C
ENST00000504811.5:c.518T>C	ENSP00000420914.1:p.Met173Thr
ENST00000505181.5:n.146T>C
ENST00000508788.5:n.345T>C
ENST00000509514.5:c.-442T>C	ENSP00000426272.1:n.-442T>C
ENST00000510025.5:c.371T>C	ENSP00000424940.1:p.Met124Thr
ENST00000512644.1:n.11T>C
ENST00000512841.5:n.491T>C
ENST00000513628.5:c.32T>C	ENSP00000425993.1:p.Met11Thr
ENST00000515235.6:n.503T>C
ENST00000515320.5:c.389T>C	ENSP00000424613.1:p.Met130Thr
NM_000414.3:c.443T>C	NP_000405.1:p.Met148Thr
NM_001199291.2:c.518T>C	NP_001186220.1:p.Met173Thr
NM_001199292.1:c.389T>C	NP_001186221.1:p.Met130Thr
NM_001292027.1:c.371T>C	NP_001278956.1:p.Met124Thr
NM_001292028.1:c.23T>C	NP_001278957.1:p.Met8Thr
NM_000414.4:c.443T>C MANE Select	NP_000405.1:p.Met148Thr
NM_001199291.3:c.518T>C	NP_001186220.1:p.Met173Thr
NM_001199292.2:c.389T>C	NP_001186221.1:p.Met130Thr
NM_001292027.2:c.371T>C	NP_001278956.1:p.Met124Thr
NM_001292028.2:c.23T>C	NP_001278957.1:p.Met8Thr
NM_001374497.1:c.434T>C	NP_001361426.1:p.Met145Thr
NM_001374498.1:c.443T>C	NP_001361427.1:p.Met148Thr
NM_001374499.1:c.116T>C	NP_001361428.1:p.Met39Thr
NM_001374500.1:c.2T>C	NP_001361429.1:p.Met1Thr
NM_001374501.1:c.32T>C	NP_001361430.1:p.Met11Thr
NM_001374502.1:c.32T>C	NP_001361431.1:p.Met11Thr
NM_001374503.1:c.32T>C	NP_001361432.1:p.Met11Thr
NR_164653.1:n.522T>C
NR_164654.1:n.710T>C