Canonical Allele Identifier: CA440564955

Gene: HADH

Linked Data

• gnomAD v4: 4-108009785-A-T
• MyVariant Identifiers: chr4:g.108930941A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108009785A>T , CM000666.2:g.108009785A>T	GRCh38
NC_000004.11:g.108930941A>T , CM000666.1:g.108930941A>T	GRCh37
NC_000004.10:g.109150390A>T	NCBI36
NG_008156.2:g.25002A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000507260.3:n.245A>T
ENST00000626637.2:c.171A>T	ENSP00000486771.1:p.Val57=
ENST00000638648.2:c.171A>T	ENSP00000507949.1:p.Val57=
ENST00000640201.2:n.245A>T
ENST00000640752.2:n.245A>T
ENST00000681992.1:n.196A>T
ENST00000682067.1:c.119A>T
ENST00000682197.1:n.243A>T
ENST00000682373.1:c.103A>T
ENST00000684696.1:c.159A>T	ENSP00000507675.1:p.Val53=
ENST00000309522.8:c.159A>T MANE Select	ENSP00000312288.4:p.Val53=
ENST00000403312.6:c.159A>T	ENSP00000385638.3:p.Val53=
ENST00000505878.4:c.336A>T	ENSP00000425952.2:p.Val112=
ENST00000507260.2:n.202A>T
ENST00000638559.1:c.120-4646A>T
ENST00000638621.1:c.133-13689A>T	ENSP00000491581.1:n.133-13689A>T
ENST00000638648.1:n.310A>T
ENST00000639146.1:c.159A>T	ENSP00000492345.1:p.Val53=
ENST00000639335.1:c.159A>T	ENSP00000491310.1:p.Val53=
ENST00000639698.1:c.39A>T	ENSP00000492420.1:p.Val13=
ENST00000639784.1:c.23A>T
ENST00000640060.1:c.*254A>T	ENSP00000492734.1:n.*254A>T
ENST00000640201.1:n.114A>T
ENST00000640586.1:c.448A>T
ENST00000640752.1:n.238A>T
ENST00000309522.7:c.159A>T	ENSP00000312288.3:p.Val53=
ENST00000403312.5:c.336A>T	ENSP00000385638.2:p.Val112=
ENST00000505878.3:c.171A>T	ENSP00000425952.1:p.Val57=
ENST00000603302.5:c.159A>T	ENSP00000474560.1:p.Val53=
ENST00000626637.1:c.171A>T	ENSP00000486771.1:p.Val57=
NM_001184705.2:c.159A>T	NP_001171634.2:p.Val53=
NM_005327.4:c.159A>T	NP_005318.3:p.Val53=
XM_005262972.1:c.171A>T	XP_005263029.1:p.Val57=
XR_938726.1:n.308A>T
NM_001331027.1:c.171A>T	NP_001317956.1:p.Val57=
XR_001741214.2:n.253A>T
XR_002959727.1:n.253A>T
NM_001184705.3:c.159A>T	NP_001171634.2:p.Val53=
NM_005327.7:c.159A>T MANE Select	NP_005318.6:p.Val53=
NM_001184705.4:c.159A>T	NP_001171634.3:p.Val53=
NM_001331027.2:c.171A>T	NP_001317956.2:p.Val57=