Canonical Allele Identifier: CA357830692

Gene: HADH

Linked Data

• gnomAD v4: 4-108009792-G-C
• MyVariant Identifiers: chr4:g.108930948G>C (hg19) ; chr4:g.108009792G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108009792G>C , CM000666.2:g.108009792G>C	GRCh38
NC_000004.11:g.108930948G>C , CM000666.1:g.108930948G>C	GRCh37
NC_000004.10:g.109150397G>C	NCBI36
NG_008156.2:g.25009G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000507260.3:n.252G>C
ENST00000626637.2:c.178G>C	ENSP00000486771.1:p.Val60Leu
ENST00000638648.2:c.178G>C	ENSP00000507949.1:p.Val60Leu
ENST00000640201.2:n.252G>C
ENST00000640752.2:n.252G>C
ENST00000681992.1:n.203G>C
ENST00000682067.1:c.126G>C
ENST00000682197.1:n.250G>C
ENST00000682373.1:c.110G>C
ENST00000684696.1:c.166G>C	ENSP00000507675.1:p.Val56Leu
ENST00000309522.8:c.166G>C MANE Select	ENSP00000312288.4:p.Val56Leu
ENST00000403312.6:c.166G>C	ENSP00000385638.3:p.Val56Leu
ENST00000505878.4:c.343G>C	ENSP00000425952.2:p.Val115Leu
ENST00000507260.2:n.209G>C
ENST00000638559.1:c.120-4639G>C
ENST00000638621.1:c.133-13682G>C	ENSP00000491581.1:n.133-13682G>C
ENST00000638648.1:n.317G>C
ENST00000639146.1:c.166G>C	ENSP00000492345.1:p.Val56Leu
ENST00000639335.1:c.166G>C	ENSP00000491310.1:p.Val56Leu
ENST00000639698.1:c.46G>C	ENSP00000492420.1:p.Val16Leu
ENST00000639784.1:c.30G>C
ENST00000640048.1:c.4G>C	ENSP00000492009.1:p.Val2Leu
ENST00000640060.1:c.*261G>C	ENSP00000492734.1:n.*261G>C
ENST00000640201.1:n.121G>C
ENST00000640586.1:c.455G>C
ENST00000640752.1:n.245G>C
ENST00000309522.7:c.166G>C	ENSP00000312288.3:p.Val56Leu
ENST00000403312.5:c.343G>C	ENSP00000385638.2:p.Val115Leu
ENST00000505878.3:c.178G>C	ENSP00000425952.1:p.Val60Leu
ENST00000603302.5:c.166G>C	ENSP00000474560.1:p.Val56Leu
ENST00000626637.1:c.178G>C	ENSP00000486771.1:p.Val60Leu
NM_001184705.2:c.166G>C	NP_001171634.2:p.Val56Leu
NM_005327.4:c.166G>C	NP_005318.3:p.Val56Leu
XM_005262972.1:c.178G>C	XP_005263029.1:p.Val60Leu
XR_938726.1:n.315G>C
NM_001331027.1:c.178G>C	NP_001317956.1:p.Val60Leu
XR_001741214.2:n.260G>C
XR_002959727.1:n.260G>C
NM_001184705.3:c.166G>C	NP_001171634.2:p.Val56Leu
NM_005327.7:c.166G>C MANE Select	NP_005318.6:p.Val56Leu
NM_001184705.4:c.166G>C	NP_001171634.3:p.Val56Leu
NM_001331027.2:c.178G>C	NP_001317956.2:p.Val60Leu