Canonical Allele Identifier: CA785077025

Gene: HADH

Linked Data

• dbSNP Id: rs1210624836
• gnomAD v3: 4-108027981-A-G
• gnomAD v4: 4-108027981-A-G
• MyVariant Identifiers: chr4:g.108949137A>G (hg19) ; chr4:g.108027981A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027981A>G , CM000666.2:g.108027981A>G	GRCh38
NC_000004.11:g.108949137A>G , CM000666.1:g.108949137A>G	GRCh37
NC_000004.10:g.109168586A>G	NCBI36
NG_008156.2:g.43198A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.5140A>G
ENST00000510728.6:n.1740A>G
ENST00000514776.3:n.363A>G
ENST00000515462.7:n.2117A>G
ENST00000626637.2:c.721+221A>G	ENSP00000486771.1:n.721+221A>G
ENST00000638648.2:c.*14A>G	ENSP00000507949.1:n.*14A>G
ENST00000640201.2:n.1016A>G
ENST00000640752.2:n.4919+221A>G
ENST00000682067.1:c.542+221A>G
ENST00000682086.1:n.999A>G
ENST00000682373.1:c.368+221A>G
ENST00000684696.1:c.679A>G	ENSP00000507675.1:p.Asn227Asp
ENST00000309522.8:c.709+221A>G MANE Select	ENSP00000312288.4:n.709+221A>G
ENST00000403312.6:c.709+221A>G	ENSP00000385638.3:n.709+221A>G
ENST00000505878.4:c.886+221A>G	ENSP00000425952.2:n.886+221A>G
ENST00000514776.2:n.363A>G
ENST00000515462.6:n.2117A>G
ENST00000638559.1:c.567+221A>G
ENST00000638621.1:c.295+221A>G	ENSP00000491581.1:n.295+221A>G
ENST00000638648.1:n.860+221A>G
ENST00000639146.1:c.*14A>G	ENSP00000492345.1:n.*14A>G
ENST00000639335.1:c.*144+221A>G	ENSP00000491310.1:n.*144+221A>G
ENST00000639698.1:c.516+4418A>G	ENSP00000492420.1:n.516+4418A>G
ENST00000639784.1:c.373+4418A>G
ENST00000640048.1:c.681+221A>G	ENSP00000492009.1:n.681+221A>G
ENST00000640060.1:c.*804+221A>G	ENSP00000492734.1:n.*804+221A>G
ENST00000640201.1:n.885A>G
ENST00000640752.1:n.4912+221A>G
ENST00000309522.7:c.709+221A>G	ENSP00000312288.3:n.709+221A>G
ENST00000403312.5:c.886+221A>G	ENSP00000385638.2:n.886+221A>G
ENST00000505878.3:c.721+221A>G	ENSP00000425952.1:n.721+221A>G
ENST00000510728.5:n.292A>G
ENST00000515462.5:n.267A>G
ENST00000603302.5:c.709+221A>G	ENSP00000474560.1:n.709+221A>G
ENST00000626637.1:c.721+221A>G	ENSP00000486771.1:n.721+221A>G
NM_001184705.2:c.709+221A>G	NP_001171634.2:n.709+221A>G
NM_005327.4:c.709+221A>G	NP_005318.3:n.709+221A>G
XM_005262972.1:c.721+221A>G	XP_005263029.1:n.721+221A>G
XR_938726.1:n.1079A>G
NM_001331027.1:c.721+221A>G	NP_001317956.1:n.721+221A>G
XR_001741214.2:n.846A>G
XR_002959727.1:n.1024A>G
NM_001184705.3:c.709+221A>G	NP_001171634.2:n.709+221A>G
NM_005327.7:c.709+221A>G MANE Select	NP_005318.6:n.709+221A>G
NM_001184705.4:c.709+221A>G	NP_001171634.3:n.709+221A>G
NM_001331027.2:c.721+221A>G	NP_001317956.2:n.721+221A>G