Canonical Allele Identifier: CA360868492
Community Standard Title: NM_000414.4(HSD17B4):c.1262-1G>A
Gene: HSD17B4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119506817G>A , CM000667.2:g.119506817G>A GRCh38
NC_000005.9:g.118842512G>A , CM000667.1:g.118842512G>A GRCh37
NC_000005.8:g.118870411G>A NCBI36
NG_008182.1:g.59365G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000414.4:c.1262-1G>A MANE Select NP_000405.1:n.1262-1G>A
ENST00000510025.7:c.1262-1G>A MANE Select ENSP00000424940.3:n.1262-1G>A
NM_000414.3:c.1262-1G>A NP_000405.1:n.1262-1G>A
NM_001199291.2:c.1337-1G>A NP_001186220.1:n.1337-1G>A
NM_001199291.3:c.1337-1G>A NP_001186220.1:n.1337-1G>A
NM_001199292.1:c.1208-1G>A NP_001186221.1:n.1208-1G>A
NM_001199292.2:c.1208-1G>A NP_001186221.1:n.1208-1G>A
NM_001292027.1:c.1190-1G>A NP_001278956.1:n.1190-1G>A
NM_001292027.2:c.1190-1G>A NP_001278956.1:n.1190-1G>A
NM_001292028.1:c.842-1G>A NP_001278957.1:n.842-1G>A
NM_001292028.2:c.842-1G>A NP_001278957.1:n.842-1G>A
NM_001374497.1:c.1253-1G>A NP_001361426.1:n.1253-1G>A
NM_001374498.1:c.1262-2324G>A NP_001361427.1:n.1262-2324G>A
NM_001374499.1:c.935-1G>A NP_001361428.1:n.935-1G>A
NM_001374500.1:c.821-1G>A NP_001361429.1:n.821-1G>A
NM_001374501.1:c.851-1G>A NP_001361430.1:n.851-1G>A
NM_001374502.1:c.851-1G>A NP_001361431.1:n.851-1G>A
NM_001374503.1:c.851-1G>A NP_001361432.1:n.851-1G>A
NR_164653.1:n.1359-1G>A
NR_164654.1:n.1627-1G>A
ENST00000256216.10:c.1262-1G>A ENSP00000256216.6:n.1262-1G>A
ENST00000414835.6:c.842-1G>A ENSP00000411960.2:n.842-1G>A
ENST00000414835.7:c.1337-1G>A ENSP00000411960.3:n.1337-1G>A
ENST00000442060.7:c.1262-1G>A ENSP00000390208.3:n.1262-1G>A
ENST00000504811.5:c.1337-1G>A ENSP00000420914.1:n.1337-1G>A
ENST00000509514.5:c.476-1G>A ENSP00000426272.1:n.476-1G>A
ENST00000509514.6:c.1262-1G>A ENSP00000426272.2:n.1262-1G>A
ENST00000510025.5:c.1190-1G>A ENSP00000424940.1:n.1190-1G>A
ENST00000513628.5:c.851-1G>A ENSP00000425993.1:n.851-1G>A
ENST00000515235.6:n.3015-1G>A
ENST00000515320.5:c.1208-1G>A ENSP00000424613.1:n.1208-1G>A
ENST00000518349.5:n.396-1G>A
ENST00000518349.6:c.506-1G>A ENSP00000507185.1:n.506-1G>A
ENST00000520244.5:n.45-1G>A
ENST00000643250.1:c.*1134-1G>A ENSP00000494737.1:n.*1134-1G>A
ENST00000644146.1:c.*2533-1G>A ENSP00000494808.1:n.*2533-1G>A
ENST00000645099.1:c.821-1G>A ENSP00000496091.1:n.821-1G>A
ENST00000645702.1:c.*665-1G>A ENSP00000496432.1:n.*665-1G>A
ENST00000645832.1:c.*1147-1G>A ENSP00000494316.1:n.*1147-1G>A
ENST00000646058.1:c.1262-1G>A ENSP00000493579.1:n.1262-1G>A
ENST00000646355.1:c.*1268-1G>A ENSP00000493801.1:n.*1268-1G>A
ENST00000646554.1:c.*1240-1G>A ENSP00000494542.1:n.*1240-1G>A
ENST00000647335.1:c.*1229-1G>A ENSP00000495180.1:n.*1229-1G>A
ENST00000647342.1:c.*1193-1G>A ENSP00000494992.1:n.*1193-1G>A
ENST00000682445.1:c.*1143-1G>A ENSP00000508061.1:n.*1143-1G>A
ENST00000682531.1:n.3154-1G>A
ENST00000682626.1:c.*768-1G>A ENSP00000507857.1:n.*768-1G>A
ENST00000682996.1:c.1262-2324G>A ENSP00000507792.1:n.1262-2324G>A
ENST00000683265.1:n.3048-1G>A
ENST00000683371.1:c.*1392-1G>A ENSP00000508376.1:n.*1392-1G>A
ENST00000683372.1:n.3272-1G>A
ENST00000683390.1:n.2952-1G>A
ENST00000683549.1:n.2876-1G>A
ENST00000683936.1:c.*2840-1G>A ENSP00000507721.1:n.*2840-1G>A
ENST00000683974.1:n.3037-1G>A
ENST00000683996.1:c.*472-1G>A ENSP00000507060.1:n.*472-1G>A
ENST00000684131.1:n.2794-1G>A
ENST00000684160.1:c.*952-1G>A ENSP00000507821.1:n.*952-1G>A
ENST00000684214.1:c.1262-1G>A ENSP00000508071.1:n.1262-1G>A