Canonical Allele Identifier: CA357835973

Gene: HADH

Linked Data

• MyVariant Identifiers: chr4:g.108948894A>T (hg19) ; chr4:g.108027738A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027738A>T , CM000666.2:g.108027738A>T	GRCh38
NC_000004.11:g.108948894A>T , CM000666.1:g.108948894A>T	GRCh37
NC_000004.10:g.109168343A>T	NCBI36
NG_008156.2:g.42955A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.4897A>T
ENST00000510728.6:n.1675A>T
ENST00000514776.3:n.120A>T
ENST00000515462.7:n.1874A>T
ENST00000626637.2:c.699A>T	ENSP00000486771.1:p.Glu233Asp
ENST00000638648.2:c.699A>T	ENSP00000507949.1:p.Glu233Asp
ENST00000640201.2:n.773A>T
ENST00000640752.2:n.4897A>T
ENST00000682067.1:c.520A>T
ENST00000682086.1:n.756A>T
ENST00000682373.1:c.346A>T
ENST00000684696.1:c.637-201A>T	ENSP00000507675.1:n.637-201A>T
ENST00000309522.8:c.687A>T MANE Select	ENSP00000312288.4:p.Glu229Asp
ENST00000403312.6:c.687A>T	ENSP00000385638.3:p.Glu229Asp
ENST00000505878.4:c.864A>T	ENSP00000425952.2:p.Glu288Asp
ENST00000514776.2:n.120A>T
ENST00000515462.6:n.1874A>T
ENST00000638559.1:c.545A>T
ENST00000638621.1:c.273A>T	ENSP00000491581.1:p.Glu91Asp
ENST00000638648.1:n.838A>T
ENST00000639146.1:c.687A>T	ENSP00000492345.1:p.Glu229Asp
ENST00000639335.1:c.*122A>T	ENSP00000491310.1:n.*122A>T
ENST00000639698.1:c.516+4175A>T	ENSP00000492420.1:n.516+4175A>T
ENST00000639784.1:c.373+4175A>T
ENST00000640048.1:c.659A>T	ENSP00000492009.1:n.659A>T
ENST00000640060.1:c.*782A>T	ENSP00000492734.1:n.*782A>T
ENST00000640201.1:n.642A>T
ENST00000640752.1:n.4890A>T
ENST00000309522.7:c.687A>T	ENSP00000312288.3:p.Glu229Asp
ENST00000403312.5:c.864A>T	ENSP00000385638.2:p.Glu288Asp
ENST00000505878.3:c.699A>T	ENSP00000425952.1:p.Glu233Asp
ENST00000507260.1:n.387A>T
ENST00000510728.5:n.227A>T
ENST00000515462.5:n.24A>T
ENST00000603302.5:c.687A>T	ENSP00000474560.1:p.Glu229Asp
ENST00000626637.1:c.699A>T	ENSP00000486771.1:p.Glu233Asp
NM_001184705.2:c.687A>T	NP_001171634.2:p.Glu229Asp
NM_005327.4:c.687A>T	NP_005318.3:p.Glu229Asp
XM_005262972.1:c.699A>T	XP_005263029.1:p.Glu233Asp
XR_938726.1:n.836A>T
NM_001331027.1:c.699A>T	NP_001317956.1:p.Glu233Asp
XR_001741214.2:n.781A>T
XR_002959727.1:n.781A>T
NM_001184705.3:c.687A>T	NP_001171634.2:p.Glu229Asp
NM_005327.7:c.687A>T MANE Select	NP_005318.6:p.Glu229Asp
NM_001184705.4:c.687A>T	NP_001171634.3:p.Glu229Asp
NM_001331027.2:c.699A>T	NP_001317956.2:p.Glu233Asp