Canonical Allele Identifier: CA446041632

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814706T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119479011T>C , CM000667.2:g.119479011T>C	GRCh38
NC_000005.9:g.118814706T>C , CM000667.1:g.118814706T>C	GRCh37
NC_000005.8:g.118842605T>C	NCBI36
NG_008182.1:g.31559T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.612T>C	ENSP00000426272.2:p.Val204=
ENST00000518349.6:c.113-17532T>C	ENSP00000507185.1:n.113-17532T>C
ENST00000682445.1:c.*493T>C	ENSP00000508061.1:n.*493T>C
ENST00000682531.1:n.713T>C
ENST00000682626.1:c.*118T>C	ENSP00000507857.1:n.*118T>C
ENST00000682996.1:c.612T>C	ENSP00000507792.1:p.Val204=
ENST00000683265.1:n.705T>C
ENST00000683371.1:c.*742T>C	ENSP00000508376.1:n.*742T>C
ENST00000683390.1:n.2302T>C
ENST00000683549.1:n.533T>C
ENST00000683936.1:c.*497T>C	ENSP00000507721.1:n.*497T>C
ENST00000683974.1:n.694T>C
ENST00000683996.1:c.201T>C	ENSP00000507060.1:p.Val67=
ENST00000684131.1:n.451T>C
ENST00000684160.1:c.*302T>C	ENSP00000507821.1:n.*302T>C
ENST00000684214.1:c.612T>C	ENSP00000508071.1:p.Val204=
ENST00000414835.7:c.687T>C	ENSP00000411960.3:p.Val229=
ENST00000510025.7:c.612T>C MANE Select	ENSP00000424940.3:p.Val204=
ENST00000643250.1:c.*484T>C	ENSP00000494737.1:n.*484T>C
ENST00000644146.1:c.*190T>C	ENSP00000494808.1:n.*190T>C
ENST00000645099.1:c.171T>C	ENSP00000496091.1:p.Val57=
ENST00000645702.1:c.201T>C	ENSP00000496432.1:p.Val67=
ENST00000645832.1:c.*497T>C	ENSP00000494316.1:n.*497T>C
ENST00000646058.1:c.612T>C	ENSP00000493579.1:p.Val204=
ENST00000646355.1:c.*618T>C	ENSP00000493801.1:n.*618T>C
ENST00000646554.1:c.*590T>C	ENSP00000494542.1:n.*590T>C
ENST00000647335.1:c.*579T>C	ENSP00000495180.1:n.*579T>C
ENST00000647342.1:c.*543T>C	ENSP00000494992.1:n.*543T>C
ENST00000256216.10:c.612T>C	ENSP00000256216.6:p.Val204=
ENST00000414835.6:c.192T>C	ENSP00000411960.2:p.Val64=
ENST00000442060.7:c.612T>C	ENSP00000390208.3:p.Val204=
ENST00000504811.5:c.687T>C	ENSP00000420914.1:p.Val229=
ENST00000505181.5:n.315T>C
ENST00000509514.5:c.-273T>C	ENSP00000426272.1:n.-273T>C
ENST00000510025.5:c.540T>C	ENSP00000424940.1:p.Val180=
ENST00000512644.1:n.180T>C
ENST00000513628.5:c.201T>C	ENSP00000425993.1:p.Val67=
ENST00000515235.6:n.672T>C
ENST00000515320.5:c.558T>C	ENSP00000424613.1:p.Val186=
NM_000414.3:c.612T>C	NP_000405.1:p.Val204=
NM_001199291.2:c.687T>C	NP_001186220.1:p.Val229=
NM_001199292.1:c.558T>C	NP_001186221.1:p.Val186=
NM_001292027.1:c.540T>C	NP_001278956.1:p.Val180=
NM_001292028.1:c.192T>C	NP_001278957.1:p.Val64=
NM_000414.4:c.612T>C MANE Select	NP_000405.1:p.Val204=
NM_001199291.3:c.687T>C	NP_001186220.1:p.Val229=
NM_001199292.2:c.558T>C	NP_001186221.1:p.Val186=
NM_001292027.2:c.540T>C	NP_001278956.1:p.Val180=
NM_001292028.2:c.192T>C	NP_001278957.1:p.Val64=
NM_001374497.1:c.603T>C	NP_001361426.1:p.Val201=
NM_001374498.1:c.612T>C	NP_001361427.1:p.Val204=
NM_001374499.1:c.285T>C	NP_001361428.1:p.Val95=
NM_001374500.1:c.171T>C	NP_001361429.1:p.Val57=
NM_001374501.1:c.201T>C	NP_001361430.1:p.Val67=
NM_001374502.1:c.201T>C	NP_001361431.1:p.Val67=
NM_001374503.1:c.201T>C	NP_001361432.1:p.Val67=
NR_164653.1:n.691T>C
NR_164654.1:n.879T>C