Canonical Allele Identifier: CA446041651

Gene: HSD17B4

Linked Data

• MyVariant Identifiers: chr5:g.118814712T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.119479017T>C , CM000667.2:g.119479017T>C	GRCh38
NC_000005.9:g.118814712T>C , CM000667.1:g.118814712T>C	GRCh37
NC_000005.8:g.118842611T>C	NCBI36
NG_008182.1:g.31565T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000509514.6:c.618T>C	ENSP00000426272.2:p.Pro206=
ENST00000518349.6:c.113-17526T>C	ENSP00000507185.1:n.113-17526T>C
ENST00000682445.1:c.*499T>C	ENSP00000508061.1:n.*499T>C
ENST00000682531.1:n.719T>C
ENST00000682626.1:c.*124T>C	ENSP00000507857.1:n.*124T>C
ENST00000682996.1:c.618T>C	ENSP00000507792.1:p.Pro206=
ENST00000683265.1:n.711T>C
ENST00000683371.1:c.*748T>C	ENSP00000508376.1:n.*748T>C
ENST00000683390.1:n.2308T>C
ENST00000683549.1:n.539T>C
ENST00000683936.1:c.*503T>C	ENSP00000507721.1:n.*503T>C
ENST00000683974.1:n.700T>C
ENST00000683996.1:c.207T>C	ENSP00000507060.1:p.Pro69=
ENST00000684131.1:n.457T>C
ENST00000684160.1:c.*308T>C	ENSP00000507821.1:n.*308T>C
ENST00000684214.1:c.618T>C	ENSP00000508071.1:p.Pro206=
ENST00000414835.7:c.693T>C	ENSP00000411960.3:p.Pro231=
ENST00000510025.7:c.618T>C MANE Select	ENSP00000424940.3:p.Pro206=
ENST00000643250.1:c.*490T>C	ENSP00000494737.1:n.*490T>C
ENST00000644146.1:c.*196T>C	ENSP00000494808.1:n.*196T>C
ENST00000645099.1:c.177T>C	ENSP00000496091.1:p.Pro59=
ENST00000645702.1:c.207T>C	ENSP00000496432.1:p.Pro69=
ENST00000645832.1:c.*503T>C	ENSP00000494316.1:n.*503T>C
ENST00000646058.1:c.618T>C	ENSP00000493579.1:p.Pro206=
ENST00000646355.1:c.*624T>C	ENSP00000493801.1:n.*624T>C
ENST00000646554.1:c.*596T>C	ENSP00000494542.1:n.*596T>C
ENST00000647335.1:c.*585T>C	ENSP00000495180.1:n.*585T>C
ENST00000647342.1:c.*549T>C	ENSP00000494992.1:n.*549T>C
ENST00000256216.10:c.618T>C	ENSP00000256216.6:p.Pro206=
ENST00000414835.6:c.198T>C	ENSP00000411960.2:p.Pro66=
ENST00000442060.7:c.618T>C	ENSP00000390208.3:p.Pro206=
ENST00000504811.5:c.693T>C	ENSP00000420914.1:p.Pro231=
ENST00000505181.5:n.321T>C
ENST00000509514.5:c.-267T>C	ENSP00000426272.1:n.-267T>C
ENST00000510025.5:c.546T>C	ENSP00000424940.1:p.Pro182=
ENST00000512644.1:n.186T>C
ENST00000513628.5:c.207T>C	ENSP00000425993.1:p.Pro69=
ENST00000515235.6:n.678T>C
ENST00000515320.5:c.564T>C	ENSP00000424613.1:p.Pro188=
NM_000414.3:c.618T>C	NP_000405.1:p.Pro206=
NM_001199291.2:c.693T>C	NP_001186220.1:p.Pro231=
NM_001199292.1:c.564T>C	NP_001186221.1:p.Pro188=
NM_001292027.1:c.546T>C	NP_001278956.1:p.Pro182=
NM_001292028.1:c.198T>C	NP_001278957.1:p.Pro66=
NM_000414.4:c.618T>C MANE Select	NP_000405.1:p.Pro206=
NM_001199291.3:c.693T>C	NP_001186220.1:p.Pro231=
NM_001199292.2:c.564T>C	NP_001186221.1:p.Pro188=
NM_001292027.2:c.546T>C	NP_001278956.1:p.Pro182=
NM_001292028.2:c.198T>C	NP_001278957.1:p.Pro66=
NM_001374497.1:c.609T>C	NP_001361426.1:p.Pro203=
NM_001374498.1:c.618T>C	NP_001361427.1:p.Pro206=
NM_001374499.1:c.291T>C	NP_001361428.1:p.Pro97=
NM_001374500.1:c.177T>C	NP_001361429.1:p.Pro59=
NM_001374501.1:c.207T>C	NP_001361430.1:p.Pro69=
NM_001374502.1:c.207T>C	NP_001361431.1:p.Pro69=
NM_001374503.1:c.207T>C	NP_001361432.1:p.Pro69=
NR_164653.1:n.697T>C
NR_164654.1:n.885T>C