Canonical Allele Identifier: CA356678854

Gene: DTHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.36290504A>G , CM000666.2:g.36290504A>G	GRCh38
NC_000004.11:g.36292126A>G , CM000666.1:g.36292126A>G	GRCh37
NC_000004.10:g.35968521A>G	NCBI36
NG_032962.1:g.13890A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001170700.3:c.1019A>G MANE Select	NP_001164171.2:p.Glu340Gly
ENST00000639862.2:c.1019A>G MANE Select	ENSP00000492542.1:p.Glu340Gly
NM_001136536.4:c.149A>G	NP_001130008.2:p.Glu50Gly
NM_001136536.5:c.149A>G	NP_001130008.2:p.Glu50Gly
NM_001170700.2:c.644A>G	NP_001164171.1:p.Glu215Gly
NM_001378435.1:c.149A>G	NP_001365364.1:p.Glu50Gly
NR_160267.1:n.1162A>G
NR_165630.1:n.1162A>G
ENST00000357504.7:c.149A>G	ENSP00000350103.3:p.Glu50Gly
ENST00000456874.3:c.644A>G	ENSP00000401597.2:p.Glu215Gly
ENST00000507598.5:c.764A>G	ENSP00000424426.1:p.Glu255Gly
XM_006714014.2:c.1019A>G	XP_006714077.1:p.Glu340Gly
XM_006714014.3:c.1019A>G	XP_006714077.1:p.Glu340Gly
XM_011513693.1:c.1019A>G	XP_011511995.1:p.Glu340Gly
XM_011513693.2:c.1019A>G	XP_011511995.1:p.Glu340Gly
XM_011513694.1:c.1019A>G	XP_011511996.1:p.Glu340Gly
XM_011513694.2:c.1019A>G	XP_011511996.1:p.Glu340Gly
XM_011513695.1:c.1019A>G	XP_011511997.1:p.Glu340Gly
XM_011513695.2:c.1019A>G	XP_011511997.1:p.Glu340Gly
XM_011513696.1:c.149A>G	XP_011511998.1:p.Glu50Gly
XM_011513696.2:c.149A>G	XP_011511998.1:p.Glu50Gly
XM_011513697.1:c.1019A>G	XP_011511999.1:p.Glu340Gly
XM_011513698.1:c.1019A>G	XP_011512000.1:p.Glu340Gly
XM_017008191.1:c.1019A>G	XP_016863680.1:p.Glu340Gly
XM_017008192.1:c.1019A>G	XP_016863681.1:p.Glu340Gly
XM_017008193.1:c.1019A>G	XP_016863682.1:p.Glu340Gly
XR_001741217.1:n.1185A>G