Canonical Allele Identifier: CA357836006

Gene: HADH

Linked Data

• MyVariant Identifiers: chr4:g.108948905T>A (hg19) ; chr4:g.108027749T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027749T>A , CM000666.2:g.108027749T>A	GRCh38
NC_000004.11:g.108948905T>A , CM000666.1:g.108948905T>A	GRCh37
NC_000004.10:g.109168354T>A	NCBI36
NG_008156.2:g.42966T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.4908T>A
ENST00000510728.6:n.1686T>A
ENST00000514776.3:n.131T>A
ENST00000515462.7:n.1885T>A
ENST00000626637.2:c.710T>A	ENSP00000486771.1:p.Leu237Gln
ENST00000638648.2:c.710T>A	ENSP00000507949.1:p.Leu237Gln
ENST00000640201.2:n.784T>A
ENST00000640752.2:n.4908T>A
ENST00000682067.1:c.531T>A
ENST00000682086.1:n.767T>A
ENST00000682373.1:c.357T>A
ENST00000684696.1:c.637-190T>A	ENSP00000507675.1:n.637-190T>A
ENST00000309522.8:c.698T>A MANE Select	ENSP00000312288.4:p.Leu233Gln
ENST00000403312.6:c.698T>A	ENSP00000385638.3:p.Leu233Gln
ENST00000505878.4:c.875T>A	ENSP00000425952.2:p.Leu292Gln
ENST00000514776.2:n.131T>A
ENST00000515462.6:n.1885T>A
ENST00000638559.1:c.556T>A
ENST00000638621.1:c.284T>A	ENSP00000491581.1:p.Leu95Gln
ENST00000638648.1:n.849T>A
ENST00000639146.1:c.698T>A	ENSP00000492345.1:p.Leu233Gln
ENST00000639335.1:c.*133T>A	ENSP00000491310.1:n.*133T>A
ENST00000639698.1:c.516+4186T>A	ENSP00000492420.1:n.516+4186T>A
ENST00000639784.1:c.373+4186T>A
ENST00000640048.1:c.670T>A	ENSP00000492009.1:n.670T>A
ENST00000640060.1:c.*793T>A	ENSP00000492734.1:n.*793T>A
ENST00000640201.1:n.653T>A
ENST00000640752.1:n.4901T>A
ENST00000309522.7:c.698T>A	ENSP00000312288.3:p.Leu233Gln
ENST00000403312.5:c.875T>A	ENSP00000385638.2:p.Leu292Gln
ENST00000505878.3:c.710T>A	ENSP00000425952.1:p.Leu237Gln
ENST00000507260.1:n.398T>A
ENST00000510728.5:n.238T>A
ENST00000515462.5:n.35T>A
ENST00000603302.5:c.698T>A	ENSP00000474560.1:p.Leu233Gln
ENST00000626637.1:c.710T>A	ENSP00000486771.1:p.Leu237Gln
NM_001184705.2:c.698T>A	NP_001171634.2:p.Leu233Gln
NM_005327.4:c.698T>A	NP_005318.3:p.Leu233Gln
XM_005262972.1:c.710T>A	XP_005263029.1:p.Leu237Gln
XR_938726.1:n.847T>A
NM_001331027.1:c.710T>A	NP_001317956.1:p.Leu237Gln
XR_001741214.2:n.792T>A
XR_002959727.1:n.792T>A
NM_001184705.3:c.698T>A	NP_001171634.2:p.Leu233Gln
NM_005327.7:c.698T>A MANE Select	NP_005318.6:p.Leu233Gln
NM_001184705.4:c.698T>A	NP_001171634.3:p.Leu233Gln
NM_001331027.2:c.710T>A	NP_001317956.2:p.Leu237Gln