Canonical Allele Identifier: CA360866455

Gene: HSD17B4

Linked Data

• gnomAD v4: 5-119479021-G-A
• MyVariant Identifiers: chr5:g.118814716G>A (hg19) ; chr5:g.119479021G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119479021G>A , CM000667.2:g.119479021G>A	GRCh38
NC_000005.9:g.118814716G>A , CM000667.1:g.118814716G>A	GRCh37
NC_000005.8:g.118842615G>A	NCBI36
NG_008182.1:g.31569G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.622G>A	ENSP00000426272.2:p.Asp208Asn
ENST00000518349.6:c.113-17522G>A	ENSP00000507185.1:n.113-17522G>A
ENST00000682445.1:c.*503G>A	ENSP00000508061.1:n.*503G>A
ENST00000682531.1:n.723G>A
ENST00000682626.1:c.*128G>A	ENSP00000507857.1:n.*128G>A
ENST00000682996.1:c.622G>A	ENSP00000507792.1:p.Asp208Asn
ENST00000683265.1:n.715G>A
ENST00000683371.1:c.*752G>A	ENSP00000508376.1:n.*752G>A
ENST00000683390.1:n.2312G>A
ENST00000683549.1:n.543G>A
ENST00000683936.1:c.*507G>A	ENSP00000507721.1:n.*507G>A
ENST00000683974.1:n.704G>A
ENST00000683996.1:c.211G>A	ENSP00000507060.1:p.Asp71Asn
ENST00000684131.1:n.461G>A
ENST00000684160.1:c.*312G>A	ENSP00000507821.1:n.*312G>A
ENST00000684214.1:c.622G>A	ENSP00000508071.1:p.Asp208Asn
ENST00000414835.7:c.697G>A	ENSP00000411960.3:p.Asp233Asn
ENST00000510025.7:c.622G>A MANE Select	ENSP00000424940.3:p.Asp208Asn
ENST00000643250.1:c.*494G>A	ENSP00000494737.1:n.*494G>A
ENST00000644146.1:c.*200G>A	ENSP00000494808.1:n.*200G>A
ENST00000645099.1:c.181G>A	ENSP00000496091.1:p.Asp61Asn
ENST00000645702.1:c.211G>A	ENSP00000496432.1:p.Gly71Arg
ENST00000645832.1:c.*507G>A	ENSP00000494316.1:n.*507G>A
ENST00000646058.1:c.622G>A	ENSP00000493579.1:p.Asp208Asn
ENST00000646355.1:c.*628G>A	ENSP00000493801.1:n.*628G>A
ENST00000646554.1:c.*600G>A	ENSP00000494542.1:n.*600G>A
ENST00000647335.1:c.*589G>A	ENSP00000495180.1:n.*589G>A
ENST00000647342.1:c.*553G>A	ENSP00000494992.1:n.*553G>A
ENST00000256216.10:c.622G>A	ENSP00000256216.6:p.Asp208Asn
ENST00000414835.6:c.202G>A	ENSP00000411960.2:p.Asp68Asn
ENST00000442060.7:c.622G>A	ENSP00000390208.3:p.Asp208Asn
ENST00000504811.5:c.697G>A	ENSP00000420914.1:p.Asp233Asn
ENST00000505181.5:n.325G>A
ENST00000509514.5:c.-263G>A	ENSP00000426272.1:n.-263G>A
ENST00000510025.5:c.550G>A	ENSP00000424940.1:p.Asp184Asn
ENST00000512644.1:n.190G>A
ENST00000513628.5:c.211G>A	ENSP00000425993.1:p.Asp71Asn
ENST00000515235.6:n.682G>A
ENST00000515320.5:c.568G>A	ENSP00000424613.1:p.Asp190Asn
NM_000414.3:c.622G>A	NP_000405.1:p.Asp208Asn
NM_001199291.2:c.697G>A	NP_001186220.1:p.Asp233Asn
NM_001199292.1:c.568G>A	NP_001186221.1:p.Asp190Asn
NM_001292027.1:c.550G>A	NP_001278956.1:p.Asp184Asn
NM_001292028.1:c.202G>A	NP_001278957.1:p.Asp68Asn
NM_000414.4:c.622G>A MANE Select	NP_000405.1:p.Asp208Asn
NM_001199291.3:c.697G>A	NP_001186220.1:p.Asp233Asn
NM_001199292.2:c.568G>A	NP_001186221.1:p.Asp190Asn
NM_001292027.2:c.550G>A	NP_001278956.1:p.Asp184Asn
NM_001292028.2:c.202G>A	NP_001278957.1:p.Asp68Asn
NM_001374497.1:c.613G>A	NP_001361426.1:p.Asp205Asn
NM_001374498.1:c.622G>A	NP_001361427.1:p.Asp208Asn
NM_001374499.1:c.295G>A	NP_001361428.1:p.Asp99Asn
NM_001374500.1:c.181G>A	NP_001361429.1:p.Asp61Asn
NM_001374501.1:c.211G>A	NP_001361430.1:p.Asp71Asn
NM_001374502.1:c.211G>A	NP_001361431.1:p.Asp71Asn
NM_001374503.1:c.211G>A	NP_001361432.1:p.Asp71Asn
NR_164653.1:n.701G>A
NR_164654.1:n.889G>A