Canonical Allele Identifier: CA440568439

Gene: HADH

Linked Data

• dbSNP Id: rs1736111797
• MyVariant Identifiers: chr4:g.108948867C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027711C>T , CM000666.2:g.108027711C>T	GRCh38
NC_000004.11:g.108948867C>T , CM000666.1:g.108948867C>T	GRCh37
NC_000004.10:g.109168316C>T	NCBI36
NG_008156.2:g.42928C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.4870C>T
ENST00000510728.6:n.1648C>T
ENST00000514776.3:n.93C>T
ENST00000515462.7:n.1847C>T
ENST00000626637.2:c.672C>T	ENSP00000486771.1:p.Asn224=
ENST00000638648.2:c.672C>T	ENSP00000507949.1:p.Asn224=
ENST00000640201.2:n.746C>T
ENST00000640752.2:n.4870C>T
ENST00000682067.1:c.493C>T
ENST00000682086.1:n.729C>T
ENST00000682373.1:c.319C>T
ENST00000684696.1:c.637-228C>T	ENSP00000507675.1:n.637-228C>T
ENST00000309522.8:c.660C>T MANE Select	ENSP00000312288.4:p.Asn220=
ENST00000403312.6:c.660C>T	ENSP00000385638.3:p.Asn220=
ENST00000505878.4:c.837C>T	ENSP00000425952.2:p.Asn279=
ENST00000514776.2:n.93C>T
ENST00000515462.6:n.1847C>T
ENST00000638559.1:c.518C>T
ENST00000638621.1:c.246C>T	ENSP00000491581.1:p.Asn82=
ENST00000638648.1:n.811C>T
ENST00000639146.1:c.660C>T	ENSP00000492345.1:p.Asn220=
ENST00000639335.1:c.*95C>T	ENSP00000491310.1:n.*95C>T
ENST00000639698.1:c.516+4148C>T	ENSP00000492420.1:n.516+4148C>T
ENST00000639784.1:c.373+4148C>T
ENST00000640048.1:c.632C>T	ENSP00000492009.1:n.632C>T
ENST00000640060.1:c.*755C>T	ENSP00000492734.1:n.*755C>T
ENST00000640201.1:n.615C>T
ENST00000640752.1:n.4863C>T
ENST00000309522.7:c.660C>T	ENSP00000312288.3:p.Asn220=
ENST00000403312.5:c.837C>T	ENSP00000385638.2:p.Asn279=
ENST00000505878.3:c.672C>T	ENSP00000425952.1:p.Asn224=
ENST00000507260.1:n.360C>T
ENST00000510728.5:n.200C>T
ENST00000603302.5:c.660C>T	ENSP00000474560.1:p.Asn220=
ENST00000626637.1:c.672C>T	ENSP00000486771.1:p.Asn224=
NM_001184705.2:c.660C>T	NP_001171634.2:p.Asn220=
NM_005327.4:c.660C>T	NP_005318.3:p.Asn220=
XM_005262972.1:c.672C>T	XP_005263029.1:p.Asn224=
XR_938726.1:n.809C>T
NM_001331027.1:c.672C>T	NP_001317956.1:p.Asn224=
XR_001741214.2:n.754C>T
XR_002959727.1:n.754C>T
NM_001184705.3:c.660C>T	NP_001171634.2:p.Asn220=
NM_005327.7:c.660C>T MANE Select	NP_005318.6:p.Asn220=
NM_001184705.4:c.660C>T	NP_001171634.3:p.Asn220=
NM_001331027.2:c.672C>T	NP_001317956.2:p.Asn224=