Canonical Allele Identifier: CA95762190

Gene: DTHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.36282022G>A , CM000666.2:g.36282022G>A	GRCh38
NC_000004.11:g.36283644G>A , CM000666.1:g.36283644G>A	GRCh37
NC_000004.10:g.35960039G>A	NCBI36
NG_032962.1:g.5408G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001170700.3:c.264G>A MANE Select	NP_001164171.2:p.Ser88=
ENST00000639862.2:c.264G>A MANE Select	ENSP00000492542.1:p.Ser88=
NM_001136536.4:c.10G>A	NP_001130008.2:p.Glu4Lys
NM_001136536.5:c.10G>A	NP_001130008.2:p.Glu4Lys
NM_001378435.1:c.10G>A	NP_001365364.1:p.Glu4Lys
NR_160267.1:n.407G>A
NR_165630.1:n.407G>A
ENST00000357504.7:c.10G>A	ENSP00000350103.3:p.Glu4Lys
XM_006714014.2:c.264G>A	XP_006714077.1:p.Ser88=
XM_006714014.3:c.264G>A	XP_006714077.1:p.Ser88=
XM_011513693.1:c.264G>A	XP_011511995.1:p.Ser88=
XM_011513693.2:c.264G>A	XP_011511995.1:p.Ser88=
XM_011513694.1:c.264G>A	XP_011511996.1:p.Ser88=
XM_011513694.2:c.264G>A	XP_011511996.1:p.Ser88=
XM_011513695.1:c.264G>A	XP_011511997.1:p.Ser88=
XM_011513695.2:c.264G>A	XP_011511997.1:p.Ser88=
XM_011513696.1:c.10G>A	XP_011511998.1:p.Glu4Lys
XM_011513696.2:c.10G>A	XP_011511998.1:p.Glu4Lys
XM_011513697.1:c.264G>A	XP_011511999.1:p.Ser88=
XM_011513698.1:c.264G>A	XP_011512000.1:p.Ser88=
XM_017008191.1:c.264G>A	XP_016863680.1:p.Ser88=
XM_017008192.1:c.264G>A	XP_016863681.1:p.Ser88=
XM_017008193.1:c.264G>A	XP_016863682.1:p.Ser88=
XR_001741217.1:n.430G>A