Canonical Allele Identifier: CA357835762

Gene: HADH

Linked Data

• COSMIC: COSM1318608 ; COSM1318609
• MyVariant Identifiers: chr4:g.108948853G>T (hg19) ; chr4:g.108027697G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027697G>T , CM000666.2:g.108027697G>T	GRCh38
NC_000004.11:g.108948853G>T , CM000666.1:g.108948853G>T	GRCh37
NC_000004.10:g.109168302G>T	NCBI36
NG_008156.2:g.42914G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.4856G>T
ENST00000510728.6:n.1634G>T
ENST00000514776.3:n.79G>T
ENST00000515462.7:n.1833G>T
ENST00000626637.2:c.658G>T	ENSP00000486771.1:p.Gly220Trp
ENST00000638648.2:c.658G>T	ENSP00000507949.1:p.Gly220Trp
ENST00000640201.2:n.732G>T
ENST00000640752.2:n.4856G>T
ENST00000682067.1:c.479G>T
ENST00000682086.1:n.715G>T
ENST00000682373.1:c.305G>T
ENST00000684696.1:c.637-242G>T	ENSP00000507675.1:n.637-242G>T
ENST00000309522.8:c.646G>T MANE Select	ENSP00000312288.4:p.Gly216Trp
ENST00000403312.6:c.646G>T	ENSP00000385638.3:p.Gly216Trp
ENST00000505878.4:c.823G>T	ENSP00000425952.2:p.Gly275Trp
ENST00000514776.2:n.79G>T
ENST00000515462.6:n.1833G>T
ENST00000638559.1:c.504G>T
ENST00000638621.1:c.232G>T	ENSP00000491581.1:p.Gly78Trp
ENST00000638648.1:n.797G>T
ENST00000639146.1:c.646G>T	ENSP00000492345.1:p.Gly216Trp
ENST00000639335.1:c.*81G>T	ENSP00000491310.1:n.*81G>T
ENST00000639698.1:c.516+4134G>T	ENSP00000492420.1:n.516+4134G>T
ENST00000639784.1:c.373+4134G>T
ENST00000640048.1:c.618G>T	ENSP00000492009.1:n.618G>T
ENST00000640060.1:c.*741G>T	ENSP00000492734.1:n.*741G>T
ENST00000640201.1:n.601G>T
ENST00000640752.1:n.4849G>T
ENST00000309522.7:c.646G>T	ENSP00000312288.3:p.Gly216Trp
ENST00000403312.5:c.823G>T	ENSP00000385638.2:p.Gly275Trp
ENST00000505878.3:c.658G>T	ENSP00000425952.1:p.Gly220Trp
ENST00000507260.1:n.346G>T
ENST00000510728.5:n.186G>T
ENST00000603302.5:c.646G>T	ENSP00000474560.1:p.Gly216Trp
ENST00000626637.1:c.658G>T	ENSP00000486771.1:p.Gly220Trp
NM_001184705.2:c.646G>T	NP_001171634.2:p.Gly216Trp
NM_005327.4:c.646G>T	NP_005318.3:p.Gly216Trp
XM_005262972.1:c.658G>T	XP_005263029.1:p.Gly220Trp
XR_938726.1:n.795G>T
NM_001331027.1:c.658G>T	NP_001317956.1:p.Gly220Trp
XR_001741214.2:n.740G>T
XR_002959727.1:n.740G>T
NM_001184705.3:c.646G>T	NP_001171634.2:p.Gly216Trp
NM_005327.7:c.646G>T MANE Select	NP_005318.6:p.Gly216Trp
NM_001184705.4:c.646G>T	NP_001171634.3:p.Gly216Trp
NM_001331027.2:c.658G>T	NP_001317956.2:p.Gly220Trp