Canonical Allele Identifier: CA2578065181

Gene: DTHD1

Linked Data

• gnomAD v4: 4-36308545-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.36308545T>C , CM000666.2:g.36308545T>C	GRCh38
NC_000004.11:g.36310167T>C , CM000666.1:g.36310167T>C	GRCh37
NC_000004.10:g.35986562T>C	NCBI36
NG_032962.1:g.31931T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639862.2:c.2095+52T>C MANE Select	ENSP00000492542.1:n.2095+52T>C
ENST00000357504.7:c.1225+52T>C	ENSP00000350103.3:n.1225+52T>C
ENST00000456874.3:c.1720+52T>C	ENSP00000401597.2:n.1720+52T>C
ENST00000507598.5:c.1840+52T>C	ENSP00000424426.1:n.1840+52T>C
NM_001136536.4:c.1225+52T>C	NP_001130008.2:n.1225+52T>C
NM_001170700.2:c.1720+52T>C	NP_001164171.1:n.1720+52T>C
XM_006714014.2:c.2095+52T>C	XP_006714077.1:n.2095+52T>C
XM_011513693.1:c.2122+52T>C	XP_011511995.1:n.2122+52T>C
XM_011513694.1:c.2059+52T>C	XP_011511996.1:n.2059+52T>C
XM_011513695.1:c.1933+52T>C	XP_011511997.1:n.1933+52T>C
XM_011513696.1:c.1252+52T>C	XP_011511998.1:n.1252+52T>C
XM_006714014.3:c.2095+52T>C	XP_006714077.1:n.2095+52T>C
XM_011513693.2:c.2122+52T>C	XP_011511995.1:n.2122+52T>C
XM_011513694.2:c.2059+52T>C	XP_011511996.1:n.2059+52T>C
XM_011513695.2:c.1933+52T>C	XP_011511997.1:n.1933+52T>C
XM_011513696.2:c.1252+52T>C	XP_011511998.1:n.1252+52T>C
XM_017008191.1:c.2122+52T>C	XP_016863680.1:n.2122+52T>C
XM_017008192.1:c.2122+52T>C	XP_016863681.1:n.2122+52T>C
XM_017008193.1:c.1643+13506T>C	XP_016863682.1:n.1643+13506T>C
XR_001741217.1:n.2280+52T>C
NM_001170700.3:c.2095+52T>C MANE Select	NP_001164171.2:n.2095+52T>C
NR_160267.1:n.2257+52T>C
NM_001136536.5:c.1225+52T>C	NP_001130008.2:n.1225+52T>C
NM_001378435.1:c.1162+52T>C	NP_001365364.1:n.1162+52T>C
NR_165630.1:n.2171+52T>C