Canonical Allele Identifier: CA360866340

Gene: HSD17B4

Linked Data

• gnomAD v4: 5-119478964-T-G
• MyVariant Identifiers: chr5:g.118814659T>G (hg19) ; chr5:g.119478964T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478964T>G , CM000667.2:g.119478964T>G	GRCh38
NC_000005.9:g.118814659T>G , CM000667.1:g.118814659T>G	GRCh37
NC_000005.8:g.118842558T>G	NCBI36
NG_008182.1:g.31512T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.565T>G	ENSP00000426272.2:p.Cys189Gly
ENST00000518349.6:c.113-17579T>G	ENSP00000507185.1:n.113-17579T>G
ENST00000682445.1:c.*446T>G	ENSP00000508061.1:n.*446T>G
ENST00000682531.1:n.666T>G
ENST00000682626.1:c.*71T>G	ENSP00000507857.1:n.*71T>G
ENST00000682996.1:c.565T>G	ENSP00000507792.1:p.Cys189Gly
ENST00000683265.1:n.658T>G
ENST00000683371.1:c.*695T>G	ENSP00000508376.1:n.*695T>G
ENST00000683390.1:n.2255T>G
ENST00000683549.1:n.486T>G
ENST00000683936.1:c.*450T>G	ENSP00000507721.1:n.*450T>G
ENST00000683974.1:n.647T>G
ENST00000683996.1:c.154T>G	ENSP00000507060.1:p.Cys52Gly
ENST00000684131.1:n.404T>G
ENST00000684160.1:c.*255T>G	ENSP00000507821.1:n.*255T>G
ENST00000684214.1:c.565T>G	ENSP00000508071.1:p.Cys189Gly
ENST00000414835.7:c.640T>G	ENSP00000411960.3:p.Cys214Gly
ENST00000510025.7:c.565T>G MANE Select	ENSP00000424940.3:p.Cys189Gly
ENST00000643250.1:c.*437T>G	ENSP00000494737.1:n.*437T>G
ENST00000644146.1:c.*143T>G	ENSP00000494808.1:n.*143T>G
ENST00000645099.1:c.124T>G	ENSP00000496091.1:p.Cys42Gly
ENST00000645702.1:c.154T>G	ENSP00000496432.1:p.Cys52Gly
ENST00000645832.1:c.*450T>G	ENSP00000494316.1:n.*450T>G
ENST00000646058.1:c.565T>G	ENSP00000493579.1:p.Cys189Gly
ENST00000646355.1:c.*571T>G	ENSP00000493801.1:n.*571T>G
ENST00000646554.1:c.*543T>G	ENSP00000494542.1:n.*543T>G
ENST00000647335.1:c.*532T>G	ENSP00000495180.1:n.*532T>G
ENST00000647342.1:c.*496T>G	ENSP00000494992.1:n.*496T>G
ENST00000256216.10:c.565T>G	ENSP00000256216.6:p.Cys189Gly
ENST00000414835.6:c.145T>G	ENSP00000411960.2:p.Cys49Gly
ENST00000442060.7:c.565T>G	ENSP00000390208.3:p.Cys189Gly
ENST00000503168.5:n.554T>G
ENST00000504811.5:c.640T>G	ENSP00000420914.1:p.Cys214Gly
ENST00000505181.5:n.268T>G
ENST00000509514.5:c.-320T>G	ENSP00000426272.1:n.-320T>G
ENST00000510025.5:c.493T>G	ENSP00000424940.1:p.Cys165Gly
ENST00000512644.1:n.133T>G
ENST00000513628.5:c.154T>G	ENSP00000425993.1:p.Cys52Gly
ENST00000515235.6:n.625T>G
ENST00000515320.5:c.511T>G	ENSP00000424613.1:p.Cys171Gly
NM_000414.3:c.565T>G	NP_000405.1:p.Cys189Gly
NM_001199291.2:c.640T>G	NP_001186220.1:p.Cys214Gly
NM_001199292.1:c.511T>G	NP_001186221.1:p.Cys171Gly
NM_001292027.1:c.493T>G	NP_001278956.1:p.Cys165Gly
NM_001292028.1:c.145T>G	NP_001278957.1:p.Cys49Gly
NM_000414.4:c.565T>G MANE Select	NP_000405.1:p.Cys189Gly
NM_001199291.3:c.640T>G	NP_001186220.1:p.Cys214Gly
NM_001199292.2:c.511T>G	NP_001186221.1:p.Cys171Gly
NM_001292027.2:c.493T>G	NP_001278956.1:p.Cys165Gly
NM_001292028.2:c.145T>G	NP_001278957.1:p.Cys49Gly
NM_001374497.1:c.556T>G	NP_001361426.1:p.Cys186Gly
NM_001374498.1:c.565T>G	NP_001361427.1:p.Cys189Gly
NM_001374499.1:c.238T>G	NP_001361428.1:p.Cys80Gly
NM_001374500.1:c.124T>G	NP_001361429.1:p.Cys42Gly
NM_001374501.1:c.154T>G	NP_001361430.1:p.Cys52Gly
NM_001374502.1:c.154T>G	NP_001361431.1:p.Cys52Gly
NM_001374503.1:c.154T>G	NP_001361432.1:p.Cys52Gly
NR_164653.1:n.644T>G
NR_164654.1:n.832T>G