Canonical Allele Identifier: CA2885599

Gene: DTHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.36290460C>T , CM000666.2:g.36290460C>T	GRCh38
NC_000004.11:g.36292082C>T , CM000666.1:g.36292082C>T	GRCh37
NC_000004.10:g.35968477C>T	NCBI36
NG_032962.1:g.13846C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001170700.3:c.975C>T MANE Select	NP_001164171.2:p.Cys325=
ENST00000639862.2:c.975C>T MANE Select	ENSP00000492542.1:p.Cys325=
NM_001136536.4:c.105C>T	NP_001130008.2:p.Cys35=
NM_001136536.5:c.105C>T	NP_001130008.2:p.Cys35=
NM_001170700.2:c.600C>T	NP_001164171.1:p.Cys200=
NM_001378435.1:c.105C>T	NP_001365364.1:p.Cys35=
NR_160267.1:n.1118C>T
NR_165630.1:n.1118C>T
ENST00000357504.7:c.105C>T	ENSP00000350103.3:p.Cys35=
ENST00000456874.3:c.600C>T	ENSP00000401597.2:p.Cys200=
ENST00000507598.5:c.720C>T	ENSP00000424426.1:p.Cys240=
XM_006714014.2:c.975C>T	XP_006714077.1:p.Cys325=
XM_006714014.3:c.975C>T	XP_006714077.1:p.Cys325=
XM_011513693.1:c.975C>T	XP_011511995.1:p.Cys325=
XM_011513693.2:c.975C>T	XP_011511995.1:p.Cys325=
XM_011513694.1:c.975C>T	XP_011511996.1:p.Cys325=
XM_011513694.2:c.975C>T	XP_011511996.1:p.Cys325=
XM_011513695.1:c.975C>T	XP_011511997.1:p.Cys325=
XM_011513695.2:c.975C>T	XP_011511997.1:p.Cys325=
XM_011513696.1:c.105C>T	XP_011511998.1:p.Cys35=
XM_011513696.2:c.105C>T	XP_011511998.1:p.Cys35=
XM_011513697.1:c.975C>T	XP_011511999.1:p.Cys325=
XM_011513698.1:c.975C>T	XP_011512000.1:p.Cys325=
XM_017008191.1:c.975C>T	XP_016863680.1:p.Cys325=
XM_017008192.1:c.975C>T	XP_016863681.1:p.Cys325=
XM_017008193.1:c.975C>T	XP_016863682.1:p.Cys325=
XR_001741217.1:n.1141C>T