Canonical Allele Identifier: CA440565004

Gene: HADH

Linked Data

• dbSNP Id: rs137853102
• gnomAD v2: 4-108930953-C-T
• gnomAD v4: 4-108009797-C-T
• MyVariant Identifiers: chr4:g.108930953C>T (hg19) ; chr4:g.108009797C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108009797C>T , CM000666.2:g.108009797C>T	GRCh38
NC_000004.11:g.108930953C>T , CM000666.1:g.108930953C>T	GRCh37
NC_000004.10:g.109150402C>T	NCBI36
NG_008156.2:g.25014C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000507260.3:n.257C>T
ENST00000626637.2:c.183C>T	ENSP00000486771.1:p.Asp61=
ENST00000638648.2:c.183C>T	ENSP00000507949.1:p.Asp61=
ENST00000640201.2:n.257C>T
ENST00000640752.2:n.257C>T
ENST00000681992.1:n.208C>T
ENST00000682067.1:c.131C>T
ENST00000682197.1:n.255C>T
ENST00000682373.1:c.115C>T
ENST00000684696.1:c.171C>T	ENSP00000507675.1:p.Asp57=
ENST00000309522.8:c.171C>T MANE Select	ENSP00000312288.4:p.Asp57=
ENST00000403312.6:c.171C>T	ENSP00000385638.3:p.Asp57=
ENST00000505878.4:c.348C>T	ENSP00000425952.2:p.Asp116=
ENST00000507260.2:n.214C>T
ENST00000638559.1:c.120-4634C>T
ENST00000638621.1:c.133-13677C>T	ENSP00000491581.1:n.133-13677C>T
ENST00000638648.1:n.322C>T
ENST00000639146.1:c.171C>T	ENSP00000492345.1:p.Asp57=
ENST00000639335.1:c.171C>T	ENSP00000491310.1:p.Asp57=
ENST00000639698.1:c.51C>T	ENSP00000492420.1:p.Asp17=
ENST00000639784.1:c.35C>T
ENST00000640048.1:c.9C>T	ENSP00000492009.1:p.Asp3=
ENST00000640060.1:c.*266C>T	ENSP00000492734.1:n.*266C>T
ENST00000640201.1:n.126C>T
ENST00000640586.1:c.460C>T
ENST00000640752.1:n.250C>T
ENST00000309522.7:c.171C>T	ENSP00000312288.3:p.Asp57=
ENST00000403312.5:c.348C>T	ENSP00000385638.2:p.Asp116=
ENST00000505878.3:c.183C>T	ENSP00000425952.1:p.Asp61=
ENST00000603302.5:c.171C>T	ENSP00000474560.1:p.Asp57=
ENST00000626637.1:c.183C>T	ENSP00000486771.1:p.Asp61=
NM_001184705.2:c.171C>T	NP_001171634.2:p.Asp57=
NM_005327.4:c.171C>T	NP_005318.3:p.Asp57=
XM_005262972.1:c.183C>T	XP_005263029.1:p.Asp61=
XR_938726.1:n.320C>T
NM_001331027.1:c.183C>T	NP_001317956.1:p.Asp61=
XR_001741214.2:n.265C>T
XR_002959727.1:n.265C>T
NM_001184705.3:c.171C>T	NP_001171634.2:p.Asp57=
NM_005327.7:c.171C>T MANE Select	NP_005318.6:p.Asp57=
NM_001184705.4:c.171C>T	NP_001171634.3:p.Asp57=
NM_001331027.2:c.183C>T	NP_001317956.2:p.Asp61=