Canonical Allele Identifier: CA1061132990

Gene: DTHD1

Linked Data

• dbSNP Id: rs1757195647
• gnomAD v3: 4-36308539-A-G
• gnomAD v4: 4-36308539-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.36308539A>G , CM000666.2:g.36308539A>G	GRCh38
NC_000004.11:g.36310161A>G , CM000666.1:g.36310161A>G	GRCh37
NC_000004.10:g.35986556A>G	NCBI36
NG_032962.1:g.31925A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639862.2:c.2095+46A>G MANE Select	ENSP00000492542.1:n.2095+46A>G
ENST00000357504.7:c.1225+46A>G	ENSP00000350103.3:n.1225+46A>G
ENST00000456874.3:c.1720+46A>G	ENSP00000401597.2:n.1720+46A>G
ENST00000507598.5:c.1840+46A>G	ENSP00000424426.1:n.1840+46A>G
NM_001136536.4:c.1225+46A>G	NP_001130008.2:n.1225+46A>G
NM_001170700.2:c.1720+46A>G	NP_001164171.1:n.1720+46A>G
XM_006714014.2:c.2095+46A>G	XP_006714077.1:n.2095+46A>G
XM_011513693.1:c.2122+46A>G	XP_011511995.1:n.2122+46A>G
XM_011513694.1:c.2059+46A>G	XP_011511996.1:n.2059+46A>G
XM_011513695.1:c.1933+46A>G	XP_011511997.1:n.1933+46A>G
XM_011513696.1:c.1252+46A>G	XP_011511998.1:n.1252+46A>G
XM_006714014.3:c.2095+46A>G	XP_006714077.1:n.2095+46A>G
XM_011513693.2:c.2122+46A>G	XP_011511995.1:n.2122+46A>G
XM_011513694.2:c.2059+46A>G	XP_011511996.1:n.2059+46A>G
XM_011513695.2:c.1933+46A>G	XP_011511997.1:n.1933+46A>G
XM_011513696.2:c.1252+46A>G	XP_011511998.1:n.1252+46A>G
XM_017008191.1:c.2122+46A>G	XP_016863680.1:n.2122+46A>G
XM_017008192.1:c.2122+46A>G	XP_016863681.1:n.2122+46A>G
XM_017008193.1:c.1643+13500A>G	XP_016863682.1:n.1643+13500A>G
XR_001741217.1:n.2280+46A>G
NM_001170700.3:c.2095+46A>G MANE Select	NP_001164171.2:n.2095+46A>G
NR_160267.1:n.2257+46A>G
NM_001136536.5:c.1225+46A>G	NP_001130008.2:n.1225+46A>G
NM_001378435.1:c.1162+46A>G	NP_001365364.1:n.1162+46A>G
NR_165630.1:n.2171+46A>G