Canonical Allele Identifier: CA1450719268

Gene: DTHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.36308568T= , CM000666.2:g.36308568T=	GRCh38
NC_000004.11:g.36310190T= , CM000666.1:g.36310190T=	GRCh37
NC_000004.10:g.35986585T=	NCBI36
NG_032962.1:g.31954T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639862.2:c.2095+75T= MANE Select	ENSP00000492542.1:n.2095+75T=
ENST00000357504.7:c.1225+75T=	ENSP00000350103.3:n.1225+75T=
ENST00000456874.3:c.1720+75T=	ENSP00000401597.2:n.1720+75T=
ENST00000507598.5:c.1840+75T=	ENSP00000424426.1:n.1840+75T=
NM_001136536.4:c.1225+75T=	NP_001130008.2:n.1225+75T=
NM_001170700.2:c.1720+75T=	NP_001164171.1:n.1720+75T=
XM_006714014.2:c.2095+75T=	XP_006714077.1:n.2095+75T=
XM_011513693.1:c.2122+75T=	XP_011511995.1:n.2122+75T=
XM_011513694.1:c.2059+75T=	XP_011511996.1:n.2059+75T=
XM_011513695.1:c.1933+75T=	XP_011511997.1:n.1933+75T=
XM_011513696.1:c.1252+75T=	XP_011511998.1:n.1252+75T=
XM_006714014.3:c.2095+75T=	XP_006714077.1:n.2095+75T=
XM_011513693.2:c.2122+75T=	XP_011511995.1:n.2122+75T=
XM_011513694.2:c.2059+75T=	XP_011511996.1:n.2059+75T=
XM_011513695.2:c.1933+75T=	XP_011511997.1:n.1933+75T=
XM_011513696.2:c.1252+75T=	XP_011511998.1:n.1252+75T=
XM_017008191.1:c.2122+75T=	XP_016863680.1:n.2122+75T=
XM_017008192.1:c.2122+75T=	XP_016863681.1:n.2122+75T=
XM_017008193.1:c.1643+13529T=	XP_016863682.1:n.1643+13529T=
XR_001741217.1:n.2280+75T=
NM_001170700.3:c.2095+75T= MANE Select	NP_001164171.2:n.2095+75T=
NR_160267.1:n.2257+75T=
NM_001136536.5:c.1225+75T=	NP_001130008.2:n.1225+75T=
NM_001378435.1:c.1162+75T=	NP_001365364.1:n.1162+75T=
NR_165630.1:n.2171+75T=