Canonical Allele Identifier: CA357835730

Gene: HADH

Linked Data

• gnomAD v4: 4-108027690-C-A
• MyVariant Identifiers: chr4:g.108948846C>A (hg19) ; chr4:g.108027690C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027690C>A , CM000666.2:g.108027690C>A	GRCh38
NC_000004.11:g.108948846C>A , CM000666.1:g.108948846C>A	GRCh37
NC_000004.10:g.109168295C>A	NCBI36
NG_008156.2:g.42907C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.4849C>A
ENST00000510728.6:n.1627C>A
ENST00000514776.3:n.72C>A
ENST00000515462.7:n.1826C>A
ENST00000626637.2:c.651C>A	ENSP00000486771.1:p.Asp217Glu
ENST00000638648.2:c.651C>A	ENSP00000507949.1:p.Asp217Glu
ENST00000640201.2:n.725C>A
ENST00000640752.2:n.4849C>A
ENST00000682067.1:c.472C>A
ENST00000682086.1:n.708C>A
ENST00000682373.1:c.298C>A
ENST00000684696.1:c.637-249C>A	ENSP00000507675.1:n.637-249C>A
ENST00000309522.8:c.639C>A MANE Select	ENSP00000312288.4:p.Asp213Glu
ENST00000403312.6:c.639C>A	ENSP00000385638.3:p.Asp213Glu
ENST00000505878.4:c.816C>A	ENSP00000425952.2:p.Asp272Glu
ENST00000514776.2:n.72C>A
ENST00000515462.6:n.1826C>A
ENST00000638559.1:c.497C>A
ENST00000638621.1:c.225C>A	ENSP00000491581.1:p.Asp75Glu
ENST00000638648.1:n.790C>A
ENST00000639146.1:c.639C>A	ENSP00000492345.1:p.Asp213Glu
ENST00000639335.1:c.*74C>A	ENSP00000491310.1:n.*74C>A
ENST00000639698.1:c.516+4127C>A	ENSP00000492420.1:n.516+4127C>A
ENST00000639784.1:c.373+4127C>A
ENST00000640048.1:c.611C>A	ENSP00000492009.1:n.611C>A
ENST00000640060.1:c.*734C>A	ENSP00000492734.1:n.*734C>A
ENST00000640201.1:n.594C>A
ENST00000640752.1:n.4842C>A
ENST00000309522.7:c.639C>A	ENSP00000312288.3:p.Asp213Glu
ENST00000403312.5:c.816C>A	ENSP00000385638.2:p.Asp272Glu
ENST00000505878.3:c.651C>A	ENSP00000425952.1:p.Asp217Glu
ENST00000507260.1:n.339C>A
ENST00000510728.5:n.179C>A
ENST00000603302.5:c.639C>A	ENSP00000474560.1:p.Asp213Glu
ENST00000626637.1:c.651C>A	ENSP00000486771.1:p.Asp217Glu
NM_001184705.2:c.639C>A	NP_001171634.2:p.Asp213Glu
NM_005327.4:c.639C>A	NP_005318.3:p.Asp213Glu
XM_005262972.1:c.651C>A	XP_005263029.1:p.Asp217Glu
XR_938726.1:n.788C>A
NM_001331027.1:c.651C>A	NP_001317956.1:p.Asp217Glu
XR_001741214.2:n.733C>A
XR_002959727.1:n.733C>A
NM_001184705.3:c.639C>A	NP_001171634.2:p.Asp213Glu
NM_005327.7:c.639C>A MANE Select	NP_005318.6:p.Asp213Glu
NM_001184705.4:c.639C>A	NP_001171634.3:p.Asp213Glu
NM_001331027.2:c.651C>A	NP_001317956.2:p.Asp217Glu