Canonical Allele Identifier: CA440568500

Gene: HADH

Linked Data

• dbSNP Id: rs1736113371
• gnomAD v4: 4-108027750-G-A
• MyVariant Identifiers: chr4:g.108948906G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027750G>A , CM000666.2:g.108027750G>A	GRCh38
NC_000004.11:g.108948906G>A , CM000666.1:g.108948906G>A	GRCh37
NC_000004.10:g.109168355G>A	NCBI36
NG_008156.2:g.42967G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.4909G>A
ENST00000510728.6:n.1687G>A
ENST00000514776.3:n.132G>A
ENST00000515462.7:n.1886G>A
ENST00000626637.2:c.711G>A	ENSP00000486771.1:p.Leu237=
ENST00000638648.2:c.711G>A	ENSP00000507949.1:p.Leu237=
ENST00000640201.2:n.785G>A
ENST00000640752.2:n.4909G>A
ENST00000682067.1:c.532G>A
ENST00000682086.1:n.768G>A
ENST00000682373.1:c.358G>A
ENST00000684696.1:c.637-189G>A	ENSP00000507675.1:n.637-189G>A
ENST00000309522.8:c.699G>A MANE Select	ENSP00000312288.4:p.Leu233=
ENST00000403312.6:c.699G>A	ENSP00000385638.3:p.Leu233=
ENST00000505878.4:c.876G>A	ENSP00000425952.2:p.Leu292=
ENST00000514776.2:n.132G>A
ENST00000515462.6:n.1886G>A
ENST00000638559.1:c.557G>A
ENST00000638621.1:c.285G>A	ENSP00000491581.1:p.Leu95=
ENST00000638648.1:n.850G>A
ENST00000639146.1:c.699G>A	ENSP00000492345.1:p.Leu233=
ENST00000639335.1:c.*134G>A	ENSP00000491310.1:n.*134G>A
ENST00000639698.1:c.516+4187G>A	ENSP00000492420.1:n.516+4187G>A
ENST00000639784.1:c.373+4187G>A
ENST00000640048.1:c.671G>A	ENSP00000492009.1:n.671G>A
ENST00000640060.1:c.*794G>A	ENSP00000492734.1:n.*794G>A
ENST00000640201.1:n.654G>A
ENST00000640752.1:n.4902G>A
ENST00000309522.7:c.699G>A	ENSP00000312288.3:p.Leu233=
ENST00000403312.5:c.876G>A	ENSP00000385638.2:p.Leu292=
ENST00000505878.3:c.711G>A	ENSP00000425952.1:p.Leu237=
ENST00000507260.1:n.399G>A
ENST00000510728.5:n.239G>A
ENST00000515462.5:n.36G>A
ENST00000603302.5:c.699G>A	ENSP00000474560.1:p.Leu233=
ENST00000626637.1:c.711G>A	ENSP00000486771.1:p.Leu237=
NM_001184705.2:c.699G>A	NP_001171634.2:p.Leu233=
NM_005327.4:c.699G>A	NP_005318.3:p.Leu233=
XM_005262972.1:c.711G>A	XP_005263029.1:p.Leu237=
XR_938726.1:n.848G>A
NM_001331027.1:c.711G>A	NP_001317956.1:p.Leu237=
XR_001741214.2:n.793G>A
XR_002959727.1:n.793G>A
NM_001184705.3:c.699G>A	NP_001171634.2:p.Leu233=
NM_005327.7:c.699G>A MANE Select	NP_005318.6:p.Leu233=
NM_001184705.4:c.699G>A	NP_001171634.3:p.Leu233=
NM_001331027.2:c.711G>A	NP_001317956.2:p.Leu237=