Canonical Allele Identifier: CA357835936

Gene: HADH

Linked Data

• dbSNP Id: rs1255896178
• gnomAD v2: 4-108948884-A-T
• gnomAD v4: 4-108027728-A-T
• MyVariant Identifiers: chr4:g.108948884A>T (hg19) ; chr4:g.108027728A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027728A>T , CM000666.2:g.108027728A>T	GRCh38
NC_000004.11:g.108948884A>T , CM000666.1:g.108948884A>T	GRCh37
NC_000004.10:g.109168333A>T	NCBI36
NG_008156.2:g.42945A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.4887A>T
ENST00000510728.6:n.1665A>T
ENST00000514776.3:n.110A>T
ENST00000515462.7:n.1864A>T
ENST00000626637.2:c.689A>T	ENSP00000486771.1:p.Tyr230Phe
ENST00000638648.2:c.689A>T	ENSP00000507949.1:p.Tyr230Phe
ENST00000640201.2:n.763A>T
ENST00000640752.2:n.4887A>T
ENST00000682067.1:c.510A>T
ENST00000682086.1:n.746A>T
ENST00000682373.1:c.336A>T
ENST00000684696.1:c.637-211A>T	ENSP00000507675.1:n.637-211A>T
ENST00000309522.8:c.677A>T MANE Select	ENSP00000312288.4:p.Tyr226Phe
ENST00000403312.6:c.677A>T	ENSP00000385638.3:p.Tyr226Phe
ENST00000505878.4:c.854A>T	ENSP00000425952.2:p.Tyr285Phe
ENST00000514776.2:n.110A>T
ENST00000515462.6:n.1864A>T
ENST00000638559.1:c.535A>T
ENST00000638621.1:c.263A>T	ENSP00000491581.1:p.Tyr88Phe
ENST00000638648.1:n.828A>T
ENST00000639146.1:c.677A>T	ENSP00000492345.1:p.Tyr226Phe
ENST00000639335.1:c.*112A>T	ENSP00000491310.1:n.*112A>T
ENST00000639698.1:c.516+4165A>T	ENSP00000492420.1:n.516+4165A>T
ENST00000639784.1:c.373+4165A>T
ENST00000640048.1:c.649A>T	ENSP00000492009.1:n.649A>T
ENST00000640060.1:c.*772A>T	ENSP00000492734.1:n.*772A>T
ENST00000640201.1:n.632A>T
ENST00000640752.1:n.4880A>T
ENST00000309522.7:c.677A>T	ENSP00000312288.3:p.Tyr226Phe
ENST00000403312.5:c.854A>T	ENSP00000385638.2:p.Tyr285Phe
ENST00000505878.3:c.689A>T	ENSP00000425952.1:p.Tyr230Phe
ENST00000507260.1:n.377A>T
ENST00000510728.5:n.217A>T
ENST00000515462.5:n.14A>T
ENST00000603302.5:c.677A>T	ENSP00000474560.1:p.Tyr226Phe
ENST00000626637.1:c.689A>T	ENSP00000486771.1:p.Tyr230Phe
NM_001184705.2:c.677A>T	NP_001171634.2:p.Tyr226Phe
NM_005327.4:c.677A>T	NP_005318.3:p.Tyr226Phe
XM_005262972.1:c.689A>T	XP_005263029.1:p.Tyr230Phe
XR_938726.1:n.826A>T
NM_001331027.1:c.689A>T	NP_001317956.1:p.Tyr230Phe
XR_001741214.2:n.771A>T
XR_002959727.1:n.771A>T
NM_001184705.3:c.677A>T	NP_001171634.2:p.Tyr226Phe
NM_005327.7:c.677A>T MANE Select	NP_005318.6:p.Tyr226Phe
NM_001184705.4:c.677A>T	NP_001171634.3:p.Tyr226Phe
NM_001331027.2:c.689A>T	NP_001317956.2:p.Tyr230Phe