Canonical Allele Identifier: CA562695409

Gene: HSD17B4

Linked Data

• dbSNP Id: rs1467766221
• gnomAD v2: 5-118814523-T-G
• MyVariant Identifiers: chr5:g.118814523T>G (hg19) ; chr5:g.119478828T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119478828T>G , CM000667.2:g.119478828T>G	GRCh38
NC_000005.9:g.118814523T>G , CM000667.1:g.118814523T>G	GRCh37
NC_000005.8:g.118842422T>G	NCBI36
NG_008182.1:g.31376T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.435-6T>G	ENSP00000426272.2:n.435-6T>G
ENST00000518349.6:c.113-17715T>G	ENSP00000507185.1:n.113-17715T>G
ENST00000682445.1:c.*316-6T>G	ENSP00000508061.1:n.*316-6T>G
ENST00000682531.1:n.536-6T>G
ENST00000682626.1:c.463-6T>G	ENSP00000507857.1:n.463-6T>G
ENST00000682996.1:c.435-6T>G	ENSP00000507792.1:n.435-6T>G
ENST00000683265.1:n.528-6T>G
ENST00000683371.1:c.*565-6T>G	ENSP00000508376.1:n.*565-6T>G
ENST00000683390.1:n.2125-6T>G
ENST00000683549.1:n.356-6T>G
ENST00000683936.1:c.*320-6T>G	ENSP00000507721.1:n.*320-6T>G
ENST00000683974.1:n.517-6T>G
ENST00000683996.1:c.24-6T>G	ENSP00000507060.1:n.24-6T>G
ENST00000684131.1:n.274-6T>G
ENST00000684160.1:c.*125-6T>G	ENSP00000507821.1:n.*125-6T>G
ENST00000684214.1:c.435-6T>G	ENSP00000508071.1:n.435-6T>G
ENST00000414835.7:c.510-6T>G	ENSP00000411960.3:n.510-6T>G
ENST00000510025.7:c.435-6T>G MANE Select	ENSP00000424940.3:n.435-6T>G
ENST00000643250.1:c.*307-6T>G	ENSP00000494737.1:n.*307-6T>G
ENST00000644146.1:c.*13-6T>G	ENSP00000494808.1:n.*13-6T>G
ENST00000645099.1:c.-7-6T>G	ENSP00000496091.1:n.-7-6T>G
ENST00000645702.1:c.24-6T>G	ENSP00000496432.1:n.24-6T>G
ENST00000645832.1:c.*320-6T>G	ENSP00000494316.1:n.*320-6T>G
ENST00000646058.1:c.435-6T>G	ENSP00000493579.1:n.435-6T>G
ENST00000646355.1:c.*441-6T>G	ENSP00000493801.1:n.*441-6T>G
ENST00000646554.1:c.*413-6T>G	ENSP00000494542.1:n.*413-6T>G
ENST00000646590.1:c.426-6T>G	ENSP00000494892.1:n.426-6T>G
ENST00000647335.1:c.*402-6T>G	ENSP00000495180.1:n.*402-6T>G
ENST00000647342.1:c.*366-6T>G	ENSP00000494992.1:n.*366-6T>G
ENST00000256216.10:c.435-6T>G	ENSP00000256216.6:n.435-6T>G
ENST00000414835.6:c.15-6T>G	ENSP00000411960.2:n.15-6T>G
ENST00000442060.7:c.435-6T>G	ENSP00000390208.3:n.435-6T>G
ENST00000503168.5:n.424-6T>G
ENST00000504811.5:c.510-6T>G	ENSP00000420914.1:n.510-6T>G
ENST00000505181.5:n.138-6T>G
ENST00000508788.5:n.337-6T>G
ENST00000509514.5:c.-450-6T>G	ENSP00000426272.1:n.-450-6T>G
ENST00000510025.5:c.363-6T>G	ENSP00000424940.1:n.363-6T>G
ENST00000512841.5:n.483-6T>G
ENST00000513628.5:c.24-6T>G	ENSP00000425993.1:n.24-6T>G
ENST00000515235.6:n.495-6T>G
ENST00000515320.5:c.381-6T>G	ENSP00000424613.1:n.381-6T>G
NM_000414.3:c.435-6T>G	NP_000405.1:n.435-6T>G
NM_001199291.2:c.510-6T>G	NP_001186220.1:n.510-6T>G
NM_001199292.1:c.381-6T>G	NP_001186221.1:n.381-6T>G
NM_001292027.1:c.363-6T>G	NP_001278956.1:n.363-6T>G
NM_001292028.1:c.15-6T>G	NP_001278957.1:n.15-6T>G
NM_000414.4:c.435-6T>G MANE Select	NP_000405.1:n.435-6T>G
NM_001199291.3:c.510-6T>G	NP_001186220.1:n.510-6T>G
NM_001199292.2:c.381-6T>G	NP_001186221.1:n.381-6T>G
NM_001292027.2:c.363-6T>G	NP_001278956.1:n.363-6T>G
NM_001292028.2:c.15-6T>G	NP_001278957.1:n.15-6T>G
NM_001374497.1:c.426-6T>G	NP_001361426.1:n.426-6T>G
NM_001374498.1:c.435-6T>G	NP_001361427.1:n.435-6T>G
NM_001374499.1:c.108-6T>G	NP_001361428.1:n.108-6T>G
NM_001374500.1:c.-7-6T>G	NP_001361429.1:n.-7-6T>G
NM_001374501.1:c.24-6T>G	NP_001361430.1:n.24-6T>G
NM_001374502.1:c.24-6T>G	NP_001361431.1:n.24-6T>G
NM_001374503.1:c.24-6T>G	NP_001361432.1:n.24-6T>G
NR_164653.1:n.514-6T>G
NR_164654.1:n.702-6T>G