Canonical Allele Identifier: CA356679016

Gene: DTHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.36290576T>C , CM000666.2:g.36290576T>C	GRCh38
NC_000004.11:g.36292198T>C , CM000666.1:g.36292198T>C	GRCh37
NC_000004.10:g.35968593T>C	NCBI36
NG_032962.1:g.13962T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001170700.3:c.1091T>C MANE Select	NP_001164171.2:p.Ile364Thr
ENST00000639862.2:c.1091T>C MANE Select	ENSP00000492542.1:p.Ile364Thr
NM_001136536.4:c.221T>C	NP_001130008.2:p.Ile74Thr
NM_001136536.5:c.221T>C	NP_001130008.2:p.Ile74Thr
NM_001170700.2:c.716T>C	NP_001164171.1:p.Ile239Thr
NM_001378435.1:c.221T>C	NP_001365364.1:p.Ile74Thr
NR_160267.1:n.1234T>C
NR_165630.1:n.1234T>C
ENST00000357504.7:c.221T>C	ENSP00000350103.3:p.Ile74Thr
ENST00000456874.3:c.716T>C	ENSP00000401597.2:p.Ile239Thr
ENST00000507598.5:c.836T>C	ENSP00000424426.1:p.Ile279Thr
XM_006714014.2:c.1091T>C	XP_006714077.1:p.Ile364Thr
XM_006714014.3:c.1091T>C	XP_006714077.1:p.Ile364Thr
XM_011513693.1:c.1091T>C	XP_011511995.1:p.Ile364Thr
XM_011513693.2:c.1091T>C	XP_011511995.1:p.Ile364Thr
XM_011513694.1:c.1091T>C	XP_011511996.1:p.Ile364Thr
XM_011513694.2:c.1091T>C	XP_011511996.1:p.Ile364Thr
XM_011513695.1:c.1091T>C	XP_011511997.1:p.Ile364Thr
XM_011513695.2:c.1091T>C	XP_011511997.1:p.Ile364Thr
XM_011513696.1:c.221T>C	XP_011511998.1:p.Ile74Thr
XM_011513696.2:c.221T>C	XP_011511998.1:p.Ile74Thr
XM_011513697.1:c.1091T>C	XP_011511999.1:p.Ile364Thr
XM_011513698.1:c.1091T>C	XP_011512000.1:p.Ile364Thr
XM_017008191.1:c.1091T>C	XP_016863680.1:p.Ile364Thr
XM_017008192.1:c.1091T>C	XP_016863681.1:p.Ile364Thr
XM_017008193.1:c.1091T>C	XP_016863682.1:p.Ile364Thr
XR_001741217.1:n.1257T>C