Canonical Allele Identifier: CA2885594

Gene: DTHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.36290396T>A , CM000666.2:g.36290396T>A	GRCh38
NC_000004.11:g.36292018T>A , CM000666.1:g.36292018T>A	GRCh37
NC_000004.10:g.35968413T>A	NCBI36
NG_032962.1:g.13782T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001170700.3:c.911T>A MANE Select	NP_001164171.2:p.Val304Asp
ENST00000639862.2:c.911T>A MANE Select	ENSP00000492542.1:p.Val304Asp
NM_001136536.4:c.41T>A	NP_001130008.2:p.Val14Asp
NM_001136536.5:c.41T>A	NP_001130008.2:p.Val14Asp
NM_001170700.2:c.536T>A	NP_001164171.1:p.Val179Asp
NM_001378435.1:c.41T>A	NP_001365364.1:p.Val14Asp
NR_160267.1:n.1054T>A
NR_165630.1:n.1054T>A
ENST00000357504.7:c.41T>A	ENSP00000350103.3:p.Val14Asp
ENST00000456874.3:c.536T>A	ENSP00000401597.2:p.Val179Asp
ENST00000507598.5:c.656T>A	ENSP00000424426.1:p.Val219Asp
XM_006714014.2:c.911T>A	XP_006714077.1:p.Val304Asp
XM_006714014.3:c.911T>A	XP_006714077.1:p.Val304Asp
XM_011513693.1:c.911T>A	XP_011511995.1:p.Val304Asp
XM_011513693.2:c.911T>A	XP_011511995.1:p.Val304Asp
XM_011513694.1:c.911T>A	XP_011511996.1:p.Val304Asp
XM_011513694.2:c.911T>A	XP_011511996.1:p.Val304Asp
XM_011513695.1:c.911T>A	XP_011511997.1:p.Val304Asp
XM_011513695.2:c.911T>A	XP_011511997.1:p.Val304Asp
XM_011513696.1:c.41T>A	XP_011511998.1:p.Val14Asp
XM_011513696.2:c.41T>A	XP_011511998.1:p.Val14Asp
XM_011513697.1:c.911T>A	XP_011511999.1:p.Val304Asp
XM_011513698.1:c.911T>A	XP_011512000.1:p.Val304Asp
XM_017008191.1:c.911T>A	XP_016863680.1:p.Val304Asp
XM_017008192.1:c.911T>A	XP_016863681.1:p.Val304Asp
XM_017008193.1:c.911T>A	XP_016863682.1:p.Val304Asp
XR_001741217.1:n.1077T>A