Canonical Allele Identifier: CA357830703

Gene: HADH

Linked Data

• MyVariant Identifiers: chr4:g.108930953C>G (hg19) ; chr4:g.108009797C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108009797C>G , CM000666.2:g.108009797C>G	GRCh38
NC_000004.11:g.108930953C>G , CM000666.1:g.108930953C>G	GRCh37
NC_000004.10:g.109150402C>G	NCBI36
NG_008156.2:g.25014C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.257C>G
ENST00000626637.2:c.183C>G	ENSP00000486771.1:p.Asp61Glu
ENST00000638648.2:c.183C>G	ENSP00000507949.1:p.Asp61Glu
ENST00000640201.2:n.257C>G
ENST00000640752.2:n.257C>G
ENST00000681992.1:n.208C>G
ENST00000682067.1:c.131C>G
ENST00000682197.1:n.255C>G
ENST00000682373.1:c.115C>G
ENST00000684696.1:c.171C>G	ENSP00000507675.1:p.Asp57Glu
ENST00000309522.8:c.171C>G MANE Select	ENSP00000312288.4:p.Asp57Glu
ENST00000403312.6:c.171C>G	ENSP00000385638.3:p.Asp57Glu
ENST00000505878.4:c.348C>G	ENSP00000425952.2:p.Asp116Glu
ENST00000507260.2:n.214C>G
ENST00000638559.1:c.120-4634C>G
ENST00000638621.1:c.133-13677C>G	ENSP00000491581.1:n.133-13677C>G
ENST00000638648.1:n.322C>G
ENST00000639146.1:c.171C>G	ENSP00000492345.1:p.Asp57Glu
ENST00000639335.1:c.171C>G	ENSP00000491310.1:p.Asp57Glu
ENST00000639698.1:c.51C>G	ENSP00000492420.1:p.Asp17Glu
ENST00000639784.1:c.35C>G
ENST00000640048.1:c.9C>G	ENSP00000492009.1:p.Asp3Glu
ENST00000640060.1:c.*266C>G	ENSP00000492734.1:n.*266C>G
ENST00000640201.1:n.126C>G
ENST00000640586.1:c.460C>G
ENST00000640752.1:n.250C>G
ENST00000309522.7:c.171C>G	ENSP00000312288.3:p.Asp57Glu
ENST00000403312.5:c.348C>G	ENSP00000385638.2:p.Asp116Glu
ENST00000505878.3:c.183C>G	ENSP00000425952.1:p.Asp61Glu
ENST00000603302.5:c.171C>G	ENSP00000474560.1:p.Asp57Glu
ENST00000626637.1:c.183C>G	ENSP00000486771.1:p.Asp61Glu
NM_001184705.2:c.171C>G	NP_001171634.2:p.Asp57Glu
NM_005327.4:c.171C>G	NP_005318.3:p.Asp57Glu
XM_005262972.1:c.183C>G	XP_005263029.1:p.Asp61Glu
XR_938726.1:n.320C>G
NM_001331027.1:c.183C>G	NP_001317956.1:p.Asp61Glu
XR_001741214.2:n.265C>G
XR_002959727.1:n.265C>G
NM_001184705.3:c.171C>G	NP_001171634.2:p.Asp57Glu
NM_005327.7:c.171C>G MANE Select	NP_005318.6:p.Asp57Glu
NM_001184705.4:c.171C>G	NP_001171634.3:p.Asp57Glu
NM_001331027.2:c.183C>G	NP_001317956.2:p.Asp61Glu