Canonical Allele Identifier: CA446040774

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118811534T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119475839T>C , CM000667.2:g.119475839T>C	GRCh38
NC_000005.9:g.118811534T>C , CM000667.1:g.118811534T>C	GRCh37
NC_000005.8:g.118839433T>C	NCBI36
NG_008182.1:g.28387T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509514.6:c.318T>C	ENSP00000426272.2:p.Arg106=
ENST00000518349.6:c.112+19471T>C	ENSP00000507185.1:n.112+19471T>C
ENST00000682445.1:c.*199T>C	ENSP00000508061.1:n.*199T>C
ENST00000682531.1:n.419T>C
ENST00000682626.1:c.377+112T>C	ENSP00000507857.1:n.377+112T>C
ENST00000682996.1:c.318T>C	ENSP00000507792.1:p.Arg106=
ENST00000683265.1:n.411T>C
ENST00000683371.1:c.*448T>C	ENSP00000508376.1:n.*448T>C
ENST00000683390.1:n.462T>C
ENST00000683936.1:c.*203T>C	ENSP00000507721.1:n.*203T>C
ENST00000683974.1:n.400T>C
ENST00000684160.1:c.393T>C	ENSP00000507821.1:p.Arg131=
ENST00000684214.1:c.318T>C	ENSP00000508071.1:p.Arg106=
ENST00000414835.7:c.393T>C	ENSP00000411960.3:p.Arg131=
ENST00000510025.7:c.318T>C MANE Select	ENSP00000424940.3:p.Arg106=
ENST00000643250.1:c.*199T>C	ENSP00000494737.1:n.*199T>C
ENST00000644146.1:c.318T>C	ENSP00000494808.1:p.Arg106=
ENST00000645832.1:c.*203T>C	ENSP00000494316.1:n.*203T>C
ENST00000646058.1:c.318T>C	ENSP00000493579.1:p.Arg106=
ENST00000646355.1:c.*324T>C	ENSP00000493801.1:n.*324T>C
ENST00000646554.1:c.*199T>C	ENSP00000494542.1:n.*199T>C
ENST00000646590.1:c.318T>C	ENSP00000494892.1:p.Arg106=
ENST00000647335.1:c.*285T>C	ENSP00000495180.1:n.*285T>C
ENST00000647342.1:c.*199T>C	ENSP00000494992.1:n.*199T>C
ENST00000256216.10:c.318T>C	ENSP00000256216.6:p.Arg106=
ENST00000414835.6:c.-94T>C	ENSP00000411960.2:n.-94T>C
ENST00000442060.7:c.318T>C	ENSP00000390208.3:p.Arg106=
ENST00000503168.5:n.307T>C
ENST00000504811.5:c.393T>C	ENSP00000420914.1:p.Arg131=
ENST00000507695.1:n.290T>C
ENST00000510025.5:c.246T>C	ENSP00000424940.1:p.Arg82=
ENST00000511186.5:n.449T>C
ENST00000512841.5:n.366T>C
ENST00000515235.6:n.378T>C
ENST00000515320.5:c.264T>C	ENSP00000424613.1:p.Arg88=
NM_000414.3:c.318T>C	NP_000405.1:p.Arg106=
NM_001199291.2:c.393T>C	NP_001186220.1:p.Arg131=
NM_001199292.1:c.264T>C	NP_001186221.1:p.Arg88=
NM_001292027.1:c.246T>C	NP_001278956.1:p.Arg82=
NM_001292028.1:c.-94T>C	NP_001278957.1:n.-94T>C
NM_000414.4:c.318T>C MANE Select	NP_000405.1:p.Arg106=
NM_001199291.3:c.393T>C	NP_001186220.1:p.Arg131=
NM_001199292.2:c.264T>C	NP_001186221.1:p.Arg88=
NM_001292027.2:c.246T>C	NP_001278956.1:p.Arg82=
NM_001292028.2:c.-94T>C	NP_001278957.1:n.-94T>C
NM_001374497.1:c.318T>C	NP_001361426.1:p.Arg106=
NM_001374498.1:c.318T>C	NP_001361427.1:p.Arg106=
NM_001374499.1:c.22+112T>C	NP_001361428.1:n.22+112T>C
NM_001374500.1:c.-221T>C	NP_001361429.1:n.-221T>C
NM_001374501.1:c.-94T>C	NP_001361430.1:n.-94T>C
NM_001374502.1:c.-94T>C	NP_001361431.1:n.-94T>C
NM_001374503.1:c.-94T>C	NP_001361432.1:n.-94T>C
NR_164653.1:n.397T>C
NR_164654.1:n.585T>C