Canonical Allele Identifier: CA357836026

Gene: HADH

Linked Data

• MyVariant Identifiers: chr4:g.108948910G>T (hg19) ; chr4:g.108027754G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027754G>T , CM000666.2:g.108027754G>T	GRCh38
NC_000004.11:g.108948910G>T , CM000666.1:g.108948910G>T	GRCh37
NC_000004.10:g.109168359G>T	NCBI36
NG_008156.2:g.42971G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.4913G>T
ENST00000510728.6:n.1691G>T
ENST00000514776.3:n.136G>T
ENST00000515462.7:n.1890G>T
ENST00000626637.2:c.715G>T	ENSP00000486771.1:p.Glu239Ter
ENST00000638648.2:c.715G>T	ENSP00000507949.1:p.Glu239Ter
ENST00000640201.2:n.789G>T
ENST00000640752.2:n.4913G>T
ENST00000682067.1:c.536G>T
ENST00000682086.1:n.772G>T
ENST00000682373.1:c.362G>T
ENST00000684696.1:c.637-185G>T	ENSP00000507675.1:n.637-185G>T
ENST00000309522.8:c.703G>T MANE Select	ENSP00000312288.4:p.Glu235Ter
ENST00000403312.6:c.703G>T	ENSP00000385638.3:p.Glu235Ter
ENST00000505878.4:c.880G>T	ENSP00000425952.2:p.Glu294Ter
ENST00000514776.2:n.136G>T
ENST00000515462.6:n.1890G>T
ENST00000638559.1:c.561G>T
ENST00000638621.1:c.289G>T	ENSP00000491581.1:p.Glu97Ter
ENST00000638648.1:n.854G>T
ENST00000639146.1:c.703G>T	ENSP00000492345.1:p.Glu235Ter
ENST00000639335.1:c.*138G>T	ENSP00000491310.1:n.*138G>T
ENST00000639698.1:c.516+4191G>T	ENSP00000492420.1:n.516+4191G>T
ENST00000639784.1:c.373+4191G>T
ENST00000640048.1:c.675G>T	ENSP00000492009.1:n.675G>T
ENST00000640060.1:c.*798G>T	ENSP00000492734.1:n.*798G>T
ENST00000640201.1:n.658G>T
ENST00000640752.1:n.4906G>T
ENST00000309522.7:c.703G>T	ENSP00000312288.3:p.Glu235Ter
ENST00000403312.5:c.880G>T	ENSP00000385638.2:p.Glu294Ter
ENST00000505878.3:c.715G>T	ENSP00000425952.1:p.Glu239Ter
ENST00000507260.1:n.403G>T
ENST00000510728.5:n.243G>T
ENST00000515462.5:n.40G>T
ENST00000603302.5:c.703G>T	ENSP00000474560.1:p.Glu235Ter
ENST00000626637.1:c.715G>T	ENSP00000486771.1:p.Glu239Ter
NM_001184705.2:c.703G>T	NP_001171634.2:p.Glu235Ter
NM_005327.4:c.703G>T	NP_005318.3:p.Glu235Ter
XM_005262972.1:c.715G>T	XP_005263029.1:p.Glu239Ter
XR_938726.1:n.852G>T
NM_001331027.1:c.715G>T	NP_001317956.1:p.Glu239Ter
XR_001741214.2:n.797G>T
XR_002959727.1:n.797G>T
NM_001184705.3:c.703G>T	NP_001171634.2:p.Glu235Ter
NM_005327.7:c.703G>T MANE Select	NP_005318.6:p.Glu235Ter
NM_001184705.4:c.703G>T	NP_001171634.3:p.Glu235Ter
NM_001331027.2:c.715G>T	NP_001317956.2:p.Glu239Ter