Canonical Allele Identifier: CA440568462

Gene: HADH

Linked Data

• MyVariant Identifiers: chr4:g.108948882A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027726A>C , CM000666.2:g.108027726A>C	GRCh38
NC_000004.11:g.108948882A>C , CM000666.1:g.108948882A>C	GRCh37
NC_000004.10:g.109168331A>C	NCBI36
NG_008156.2:g.42943A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.4885A>C
ENST00000510728.6:n.1663A>C
ENST00000514776.3:n.108A>C
ENST00000515462.7:n.1862A>C
ENST00000626637.2:c.687A>C	ENSP00000486771.1:p.Pro229=
ENST00000638648.2:c.687A>C	ENSP00000507949.1:p.Pro229=
ENST00000640201.2:n.761A>C
ENST00000640752.2:n.4885A>C
ENST00000682067.1:c.508A>C
ENST00000682086.1:n.744A>C
ENST00000682373.1:c.334A>C
ENST00000684696.1:c.637-213A>C	ENSP00000507675.1:n.637-213A>C
ENST00000309522.8:c.675A>C MANE Select	ENSP00000312288.4:p.Pro225=
ENST00000403312.6:c.675A>C	ENSP00000385638.3:p.Pro225=
ENST00000505878.4:c.852A>C	ENSP00000425952.2:p.Pro284=
ENST00000514776.2:n.108A>C
ENST00000515462.6:n.1862A>C
ENST00000638559.1:c.533A>C
ENST00000638621.1:c.261A>C	ENSP00000491581.1:p.Pro87=
ENST00000638648.1:n.826A>C
ENST00000639146.1:c.675A>C	ENSP00000492345.1:p.Pro225=
ENST00000639335.1:c.*110A>C	ENSP00000491310.1:n.*110A>C
ENST00000639698.1:c.516+4163A>C	ENSP00000492420.1:n.516+4163A>C
ENST00000639784.1:c.373+4163A>C
ENST00000640048.1:c.647A>C	ENSP00000492009.1:n.647A>C
ENST00000640060.1:c.*770A>C	ENSP00000492734.1:n.*770A>C
ENST00000640201.1:n.630A>C
ENST00000640752.1:n.4878A>C
ENST00000309522.7:c.675A>C	ENSP00000312288.3:p.Pro225=
ENST00000403312.5:c.852A>C	ENSP00000385638.2:p.Pro284=
ENST00000505878.3:c.687A>C	ENSP00000425952.1:p.Pro229=
ENST00000507260.1:n.375A>C
ENST00000510728.5:n.215A>C
ENST00000515462.5:n.12A>C
ENST00000603302.5:c.675A>C	ENSP00000474560.1:p.Pro225=
ENST00000626637.1:c.687A>C	ENSP00000486771.1:p.Pro229=
NM_001184705.2:c.675A>C	NP_001171634.2:p.Pro225=
NM_005327.4:c.675A>C	NP_005318.3:p.Pro225=
XM_005262972.1:c.687A>C	XP_005263029.1:p.Pro229=
XR_938726.1:n.824A>C
NM_001331027.1:c.687A>C	NP_001317956.1:p.Pro229=
XR_001741214.2:n.769A>C
XR_002959727.1:n.769A>C
NM_001184705.3:c.675A>C	NP_001171634.2:p.Pro225=
NM_005327.7:c.675A>C MANE Select	NP_005318.6:p.Pro225=
NM_001184705.4:c.675A>C	NP_001171634.3:p.Pro225=
NM_001331027.2:c.687A>C	NP_001317956.2:p.Pro229=