Canonical Allele Identifier: CA1577035691
Community Standard Title: NM_000414.4(HSD17B4):c.1369A= (p.Asn457=)
Gene: HSD17B4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.119509176A= , CM000667.2:g.119509176A= GRCh38
NC_000005.9:g.118844871A= , CM000667.1:g.118844871A= GRCh37
NC_000005.8:g.118872770A= NCBI36
NG_008182.1:g.61724A=

Transcript Alleles

HGVS Amino-acid Change
NM_000414.4:c.1369A= MANE Select NP_000405.1:p.Asn457=
ENST00000510025.7:c.1369A= MANE Select ENSP00000424940.3:p.Asn457=
NM_000414.3:c.1369A= NP_000405.1:p.Asn457=
NM_001199291.2:c.1444A= NP_001186220.1:p.Asn482=
NM_001199291.3:c.1444A= NP_001186220.1:p.Asn482=
NM_001199292.1:c.1315A= NP_001186221.1:p.Asn439=
NM_001199292.2:c.1315A= NP_001186221.1:p.Asn439=
NM_001292027.1:c.1297A= NP_001278956.1:p.Asn433=
NM_001292027.2:c.1297A= NP_001278956.1:p.Asn433=
NM_001292028.1:c.949A= NP_001278957.1:p.Asn317=
NM_001292028.2:c.949A= NP_001278957.1:p.Asn317=
NM_001374497.1:c.1360A= NP_001361426.1:p.Asn454=
NM_001374498.1:c.1297A= NP_001361427.1:p.Asn433=
NM_001374499.1:c.1042A= NP_001361428.1:p.Asn348=
NM_001374500.1:c.928A= NP_001361429.1:p.Asn310=
NM_001374501.1:c.958A= NP_001361430.1:p.Asn320=
NM_001374502.1:c.958A= NP_001361431.1:p.Asn320=
NM_001374503.1:c.958A= NP_001361432.1:p.Asn320=
NR_164653.1:n.1466A=
NR_164654.1:n.1734A=
ENST00000256216.10:c.1369A= ENSP00000256216.6:p.Asn457=
ENST00000414835.6:c.949A= ENSP00000411960.2:p.Asn317=
ENST00000414835.7:c.1444A= ENSP00000411960.3:p.Asn482=
ENST00000442060.7:c.1369A= ENSP00000390208.3:p.Asn457=
ENST00000504811.5:c.1444A= ENSP00000420914.1:p.Asn482=
ENST00000509514.5:c.583A= ENSP00000426272.1:p.Asn195=
ENST00000509514.6:c.1334-34A= ENSP00000426272.2:n.1334-34A=
ENST00000510025.5:c.1297A= ENSP00000424940.1:p.Asn433=
ENST00000513628.5:c.958A= ENSP00000425993.1:p.Asn320=
ENST00000515235.6:n.3122A=
ENST00000515320.5:c.1315A= ENSP00000424613.1:p.Asn439=
ENST00000518349.5:n.503A=
ENST00000518349.6:c.613A= ENSP00000507185.1:p.Asn205=
ENST00000520244.5:n.152A=
ENST00000522415.5:n.36A=
ENST00000643250.1:c.*1241A= ENSP00000494737.1:n.*1241A=
ENST00000644146.1:c.*2640A= ENSP00000494808.1:n.*2640A=
ENST00000645099.1:c.928A= ENSP00000496091.1:p.Asn310=
ENST00000645702.1:c.*772A= ENSP00000496432.1:n.*772A=
ENST00000645832.1:c.*1254A= ENSP00000494316.1:n.*1254A=
ENST00000646058.1:c.1369A= ENSP00000493579.1:p.Asn457=
ENST00000646355.1:c.*1375A= ENSP00000493801.1:n.*1375A=
ENST00000646554.1:c.*1347A= ENSP00000494542.1:n.*1347A=
ENST00000647335.1:c.*1336A= ENSP00000495180.1:n.*1336A=
ENST00000647342.1:c.*1300A= ENSP00000494992.1:n.*1300A=
ENST00000682445.1:c.*1250A= ENSP00000508061.1:n.*1250A=
ENST00000682531.1:n.3261A=
ENST00000682626.1:c.*875A= ENSP00000507857.1:n.*875A=
ENST00000682996.1:c.1297A= ENSP00000507792.1:p.Asn433=
ENST00000683265.1:n.3155A=
ENST00000683371.1:c.*1499A= ENSP00000508376.1:n.*1499A=
ENST00000683372.1:n.3379A=
ENST00000683390.1:n.3059A=
ENST00000683549.1:n.2983A=
ENST00000683936.1:c.*2947A= ENSP00000507721.1:n.*2947A=
ENST00000683974.1:n.3144A=
ENST00000683996.1:c.*579A= ENSP00000507060.1:n.*579A=
ENST00000684131.1:n.2901A=
ENST00000684160.1:c.*1059A= ENSP00000507821.1:n.*1059A=
ENST00000684214.1:c.1369A= ENSP00000508071.1:p.Asn457=