Canonical Allele Identifier: CA357835962

Gene: HADH

Linked Data

• MyVariant Identifiers: chr4:g.108948892G>A (hg19) ; chr4:g.108027736G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027736G>A , CM000666.2:g.108027736G>A	GRCh38
NC_000004.11:g.108948892G>A , CM000666.1:g.108948892G>A	GRCh37
NC_000004.10:g.109168341G>A	NCBI36
NG_008156.2:g.42953G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.4895G>A
ENST00000510728.6:n.1673G>A
ENST00000514776.3:n.118G>A
ENST00000515462.7:n.1872G>A
ENST00000626637.2:c.697G>A	ENSP00000486771.1:p.Glu233Lys
ENST00000638648.2:c.697G>A	ENSP00000507949.1:p.Glu233Lys
ENST00000640201.2:n.771G>A
ENST00000640752.2:n.4895G>A
ENST00000682067.1:c.518G>A
ENST00000682086.1:n.754G>A
ENST00000682373.1:c.344G>A
ENST00000684696.1:c.637-203G>A	ENSP00000507675.1:n.637-203G>A
ENST00000309522.8:c.685G>A MANE Select	ENSP00000312288.4:p.Glu229Lys
ENST00000403312.6:c.685G>A	ENSP00000385638.3:p.Glu229Lys
ENST00000505878.4:c.862G>A	ENSP00000425952.2:p.Glu288Lys
ENST00000514776.2:n.118G>A
ENST00000515462.6:n.1872G>A
ENST00000638559.1:c.543G>A
ENST00000638621.1:c.271G>A	ENSP00000491581.1:p.Glu91Lys
ENST00000638648.1:n.836G>A
ENST00000639146.1:c.685G>A	ENSP00000492345.1:p.Glu229Lys
ENST00000639335.1:c.*120G>A	ENSP00000491310.1:n.*120G>A
ENST00000639698.1:c.516+4173G>A	ENSP00000492420.1:n.516+4173G>A
ENST00000639784.1:c.373+4173G>A
ENST00000640048.1:c.657G>A	ENSP00000492009.1:n.657G>A
ENST00000640060.1:c.*780G>A	ENSP00000492734.1:n.*780G>A
ENST00000640201.1:n.640G>A
ENST00000640752.1:n.4888G>A
ENST00000309522.7:c.685G>A	ENSP00000312288.3:p.Glu229Lys
ENST00000403312.5:c.862G>A	ENSP00000385638.2:p.Glu288Lys
ENST00000505878.3:c.697G>A	ENSP00000425952.1:p.Glu233Lys
ENST00000507260.1:n.385G>A
ENST00000510728.5:n.225G>A
ENST00000515462.5:n.22G>A
ENST00000603302.5:c.685G>A	ENSP00000474560.1:p.Glu229Lys
ENST00000626637.1:c.697G>A	ENSP00000486771.1:p.Glu233Lys
NM_001184705.2:c.685G>A	NP_001171634.2:p.Glu229Lys
NM_005327.4:c.685G>A	NP_005318.3:p.Glu229Lys
XM_005262972.1:c.697G>A	XP_005263029.1:p.Glu233Lys
XR_938726.1:n.834G>A
NM_001331027.1:c.697G>A	NP_001317956.1:p.Glu233Lys
XR_001741214.2:n.779G>A
XR_002959727.1:n.779G>A
NM_001184705.3:c.685G>A	NP_001171634.2:p.Glu229Lys
NM_005327.7:c.685G>A MANE Select	NP_005318.6:p.Glu229Lys
NM_001184705.4:c.685G>A	NP_001171634.3:p.Glu229Lys
NM_001331027.2:c.697G>A	NP_001317956.2:p.Glu233Lys