Canonical Allele Identifier: CA357835999

Gene: HADH

Linked Data

• MyVariant Identifiers: chr4:g.108948902G>C (hg19) ; chr4:g.108027746G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027746G>C , CM000666.2:g.108027746G>C	GRCh38
NC_000004.11:g.108948902G>C , CM000666.1:g.108948902G>C	GRCh37
NC_000004.10:g.109168351G>C	NCBI36
NG_008156.2:g.42963G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.4905G>C
ENST00000510728.6:n.1683G>C
ENST00000514776.3:n.128G>C
ENST00000515462.7:n.1882G>C
ENST00000626637.2:c.707G>C	ENSP00000486771.1:p.Arg236Thr
ENST00000638648.2:c.707G>C	ENSP00000507949.1:p.Arg236Thr
ENST00000640201.2:n.781G>C
ENST00000640752.2:n.4905G>C
ENST00000682067.1:c.528G>C
ENST00000682086.1:n.764G>C
ENST00000682373.1:c.354G>C
ENST00000684696.1:c.637-193G>C	ENSP00000507675.1:n.637-193G>C
ENST00000309522.8:c.695G>C MANE Select	ENSP00000312288.4:p.Arg232Thr
ENST00000403312.6:c.695G>C	ENSP00000385638.3:p.Arg232Thr
ENST00000505878.4:c.872G>C	ENSP00000425952.2:p.Arg291Thr
ENST00000514776.2:n.128G>C
ENST00000515462.6:n.1882G>C
ENST00000638559.1:c.553G>C
ENST00000638621.1:c.281G>C	ENSP00000491581.1:p.Arg94Thr
ENST00000638648.1:n.846G>C
ENST00000639146.1:c.695G>C	ENSP00000492345.1:p.Arg232Thr
ENST00000639335.1:c.*130G>C	ENSP00000491310.1:n.*130G>C
ENST00000639698.1:c.516+4183G>C	ENSP00000492420.1:n.516+4183G>C
ENST00000639784.1:c.373+4183G>C
ENST00000640048.1:c.667G>C	ENSP00000492009.1:n.667G>C
ENST00000640060.1:c.*790G>C	ENSP00000492734.1:n.*790G>C
ENST00000640201.1:n.650G>C
ENST00000640752.1:n.4898G>C
ENST00000309522.7:c.695G>C	ENSP00000312288.3:p.Arg232Thr
ENST00000403312.5:c.872G>C	ENSP00000385638.2:p.Arg291Thr
ENST00000505878.3:c.707G>C	ENSP00000425952.1:p.Arg236Thr
ENST00000507260.1:n.395G>C
ENST00000510728.5:n.235G>C
ENST00000515462.5:n.32G>C
ENST00000603302.5:c.695G>C	ENSP00000474560.1:p.Arg232Thr
ENST00000626637.1:c.707G>C	ENSP00000486771.1:p.Arg236Thr
NM_001184705.2:c.695G>C	NP_001171634.2:p.Arg232Thr
NM_005327.4:c.695G>C	NP_005318.3:p.Arg232Thr
XM_005262972.1:c.707G>C	XP_005263029.1:p.Arg236Thr
XR_938726.1:n.844G>C
NM_001331027.1:c.707G>C	NP_001317956.1:p.Arg236Thr
XR_001741214.2:n.789G>C
XR_002959727.1:n.789G>C
NM_001184705.3:c.695G>C	NP_001171634.2:p.Arg232Thr
NM_005327.7:c.695G>C MANE Select	NP_005318.6:p.Arg232Thr
NM_001184705.4:c.695G>C	NP_001171634.3:p.Arg232Thr
NM_001331027.2:c.707G>C	NP_001317956.2:p.Arg236Thr