Canonical Allele Identifier: CA357830699

Gene: HADH

Linked Data

• gnomAD v4: 4-108009795-G-A
• MyVariant Identifiers: chr4:g.108930951G>A (hg19) ; chr4:g.108009795G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108009795G>A , CM000666.2:g.108009795G>A	GRCh38
NC_000004.11:g.108930951G>A , CM000666.1:g.108930951G>A	GRCh37
NC_000004.10:g.109150400G>A	NCBI36
NG_008156.2:g.25012G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000507260.3:n.255G>A
ENST00000626637.2:c.181G>A	ENSP00000486771.1:p.Asp61Asn
ENST00000638648.2:c.181G>A	ENSP00000507949.1:p.Asp61Asn
ENST00000640201.2:n.255G>A
ENST00000640752.2:n.255G>A
ENST00000681992.1:n.206G>A
ENST00000682067.1:c.129G>A
ENST00000682197.1:n.253G>A
ENST00000682373.1:c.113G>A
ENST00000684696.1:c.169G>A	ENSP00000507675.1:p.Asp57Asn
ENST00000309522.8:c.169G>A MANE Select	ENSP00000312288.4:p.Asp57Asn
ENST00000403312.6:c.169G>A	ENSP00000385638.3:p.Asp57Asn
ENST00000505878.4:c.346G>A	ENSP00000425952.2:p.Asp116Asn
ENST00000507260.2:n.212G>A
ENST00000638559.1:c.120-4636G>A
ENST00000638621.1:c.133-13679G>A	ENSP00000491581.1:n.133-13679G>A
ENST00000638648.1:n.320G>A
ENST00000639146.1:c.169G>A	ENSP00000492345.1:p.Asp57Asn
ENST00000639335.1:c.169G>A	ENSP00000491310.1:p.Asp57Asn
ENST00000639698.1:c.49G>A	ENSP00000492420.1:p.Asp17Asn
ENST00000639784.1:c.33G>A
ENST00000640048.1:c.7G>A	ENSP00000492009.1:p.Asp3Asn
ENST00000640060.1:c.*264G>A	ENSP00000492734.1:n.*264G>A
ENST00000640201.1:n.124G>A
ENST00000640586.1:c.458G>A
ENST00000640752.1:n.248G>A
ENST00000309522.7:c.169G>A	ENSP00000312288.3:p.Asp57Asn
ENST00000403312.5:c.346G>A	ENSP00000385638.2:p.Asp116Asn
ENST00000505878.3:c.181G>A	ENSP00000425952.1:p.Asp61Asn
ENST00000603302.5:c.169G>A	ENSP00000474560.1:p.Asp57Asn
ENST00000626637.1:c.181G>A	ENSP00000486771.1:p.Asp61Asn
NM_001184705.2:c.169G>A	NP_001171634.2:p.Asp57Asn
NM_005327.4:c.169G>A	NP_005318.3:p.Asp57Asn
XM_005262972.1:c.181G>A	XP_005263029.1:p.Asp61Asn
XR_938726.1:n.318G>A
NM_001331027.1:c.181G>A	NP_001317956.1:p.Asp61Asn
XR_001741214.2:n.263G>A
XR_002959727.1:n.263G>A
NM_001184705.3:c.169G>A	NP_001171634.2:p.Asp57Asn
NM_005327.7:c.169G>A MANE Select	NP_005318.6:p.Asp57Asn
NM_001184705.4:c.169G>A	NP_001171634.3:p.Asp57Asn
NM_001331027.2:c.181G>A	NP_001317956.2:p.Asp61Asn