Canonical Allele Identifier: CA1450719317
Gene: DTHD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.36308597G= , CM000666.2:g.36308597G= GRCh38
NC_000004.11:g.36310219G= , CM000666.1:g.36310219G= GRCh37
NC_000004.10:g.35986614G= NCBI36
NG_032962.1:g.31983G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000639862.2:c.2095+104G= MANE Select ENSP00000492542.1:n.2095+104G=
ENST00000357504.7:c.1225+104G= ENSP00000350103.3:n.1225+104G=
ENST00000456874.3:c.1720+104G= ENSP00000401597.2:n.1720+104G=
ENST00000507598.5:c.1840+104G= ENSP00000424426.1:n.1840+104G=
NM_001136536.4:c.1225+104G= NP_001130008.2:n.1225+104G=
NM_001170700.2:c.1720+104G= NP_001164171.1:n.1720+104G=
XM_006714014.2:c.2095+104G= XP_006714077.1:n.2095+104G=
XM_011513693.1:c.2122+104G= XP_011511995.1:n.2122+104G=
XM_011513694.1:c.2059+104G= XP_011511996.1:n.2059+104G=
XM_011513695.1:c.1933+104G= XP_011511997.1:n.1933+104G=
XM_011513696.1:c.1252+104G= XP_011511998.1:n.1252+104G=
XM_006714014.3:c.2095+104G= XP_006714077.1:n.2095+104G=
XM_011513693.2:c.2122+104G= XP_011511995.1:n.2122+104G=
XM_011513694.2:c.2059+104G= XP_011511996.1:n.2059+104G=
XM_011513695.2:c.1933+104G= XP_011511997.1:n.1933+104G=
XM_011513696.2:c.1252+104G= XP_011511998.1:n.1252+104G=
XM_017008191.1:c.2122+104G= XP_016863680.1:n.2122+104G=
XM_017008192.1:c.2122+104G= XP_016863681.1:n.2122+104G=
XM_017008193.1:c.1643+13558G= XP_016863682.1:n.1643+13558G=
XR_001741217.1:n.2280+104G=
NM_001170700.3:c.2095+104G= MANE Select NP_001164171.2:n.2095+104G=
NR_160267.1:n.2257+104G=
NM_001136536.5:c.1225+104G= NP_001130008.2:n.1225+104G=
NM_001378435.1:c.1162+104G= NP_001365364.1:n.1162+104G=
NR_165630.1:n.2171+104G=