Canonical Allele Identifier: CA357835989

Gene: HADH

Linked Data

• MyVariant Identifiers: chr4:g.108948898A>C (hg19) ; chr4:g.108027742A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027742A>C , CM000666.2:g.108027742A>C	GRCh38
NC_000004.11:g.108948898A>C , CM000666.1:g.108948898A>C	GRCh37
NC_000004.10:g.109168347A>C	NCBI36
NG_008156.2:g.42959A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.4901A>C
ENST00000510728.6:n.1679A>C
ENST00000514776.3:n.124A>C
ENST00000515462.7:n.1878A>C
ENST00000626637.2:c.703A>C	ENSP00000486771.1:p.Ile235Leu
ENST00000638648.2:c.703A>C	ENSP00000507949.1:p.Ile235Leu
ENST00000640201.2:n.777A>C
ENST00000640752.2:n.4901A>C
ENST00000682067.1:c.524A>C
ENST00000682086.1:n.760A>C
ENST00000682373.1:c.350A>C
ENST00000684696.1:c.637-197A>C	ENSP00000507675.1:n.637-197A>C
ENST00000309522.8:c.691A>C MANE Select	ENSP00000312288.4:p.Ile231Leu
ENST00000403312.6:c.691A>C	ENSP00000385638.3:p.Ile231Leu
ENST00000505878.4:c.868A>C	ENSP00000425952.2:p.Ile290Leu
ENST00000514776.2:n.124A>C
ENST00000515462.6:n.1878A>C
ENST00000638559.1:c.549A>C
ENST00000638621.1:c.277A>C	ENSP00000491581.1:p.Ile93Leu
ENST00000638648.1:n.842A>C
ENST00000639146.1:c.691A>C	ENSP00000492345.1:p.Ile231Leu
ENST00000639335.1:c.*126A>C	ENSP00000491310.1:n.*126A>C
ENST00000639698.1:c.516+4179A>C	ENSP00000492420.1:n.516+4179A>C
ENST00000639784.1:c.373+4179A>C
ENST00000640048.1:c.663A>C	ENSP00000492009.1:n.663A>C
ENST00000640060.1:c.*786A>C	ENSP00000492734.1:n.*786A>C
ENST00000640201.1:n.646A>C
ENST00000640752.1:n.4894A>C
ENST00000309522.7:c.691A>C	ENSP00000312288.3:p.Ile231Leu
ENST00000403312.5:c.868A>C	ENSP00000385638.2:p.Ile290Leu
ENST00000505878.3:c.703A>C	ENSP00000425952.1:p.Ile235Leu
ENST00000507260.1:n.391A>C
ENST00000510728.5:n.231A>C
ENST00000515462.5:n.28A>C
ENST00000603302.5:c.691A>C	ENSP00000474560.1:p.Ile231Leu
ENST00000626637.1:c.703A>C	ENSP00000486771.1:p.Ile235Leu
NM_001184705.2:c.691A>C	NP_001171634.2:p.Ile231Leu
NM_005327.4:c.691A>C	NP_005318.3:p.Ile231Leu
XM_005262972.1:c.703A>C	XP_005263029.1:p.Ile235Leu
XR_938726.1:n.840A>C
NM_001331027.1:c.703A>C	NP_001317956.1:p.Ile235Leu
XR_001741214.2:n.785A>C
XR_002959727.1:n.785A>C
NM_001184705.3:c.691A>C	NP_001171634.2:p.Ile231Leu
NM_005327.7:c.691A>C MANE Select	NP_005318.6:p.Ile231Leu
NM_001184705.4:c.691A>C	NP_001171634.3:p.Ile231Leu
NM_001331027.2:c.703A>C	NP_001317956.2:p.Ile235Leu