Canonical Allele Identifier: CA1066482550

Gene: HADH

Linked Data

• dbSNP Id: rs1736122765
• gnomAD v3: 4-108028025-G-A
• gnomAD v4: 4-108028025-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108028025G>A , CM000666.2:g.108028025G>A	GRCh38
NC_000004.11:g.108949181G>A , CM000666.1:g.108949181G>A	GRCh37
NC_000004.10:g.109168630G>A	NCBI36
NG_008156.2:g.43242G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.5184G>A
ENST00000510728.6:n.1784G>A
ENST00000514776.3:n.407G>A
ENST00000515462.7:n.2161G>A
ENST00000626637.2:c.721+265G>A	ENSP00000486771.1:n.721+265G>A
ENST00000638648.2:c.*58G>A	ENSP00000507949.1:n.*58G>A
ENST00000640201.2:n.1060G>A
ENST00000640752.2:n.4919+265G>A
ENST00000682067.1:c.542+265G>A
ENST00000682086.1:n.1043G>A
ENST00000682373.1:c.368+265G>A
ENST00000684696.1:c.723G>A	ENSP00000507675.1:p.Met241Ile
ENST00000309522.8:c.709+265G>A MANE Select	ENSP00000312288.4:n.709+265G>A
ENST00000403312.6:c.709+265G>A	ENSP00000385638.3:n.709+265G>A
ENST00000505878.4:c.886+265G>A	ENSP00000425952.2:n.886+265G>A
ENST00000514776.2:n.407G>A
ENST00000515462.6:n.2161G>A
ENST00000638559.1:c.567+265G>A
ENST00000638621.1:c.295+265G>A	ENSP00000491581.1:n.295+265G>A
ENST00000638648.1:n.860+265G>A
ENST00000639146.1:c.*58G>A	ENSP00000492345.1:n.*58G>A
ENST00000639335.1:c.*144+265G>A	ENSP00000491310.1:n.*144+265G>A
ENST00000639698.1:c.516+4462G>A	ENSP00000492420.1:n.516+4462G>A
ENST00000639784.1:c.373+4462G>A
ENST00000640048.1:c.681+265G>A	ENSP00000492009.1:n.681+265G>A
ENST00000640060.1:c.*804+265G>A	ENSP00000492734.1:n.*804+265G>A
ENST00000640201.1:n.929G>A
ENST00000640752.1:n.4912+265G>A
ENST00000309522.7:c.709+265G>A	ENSP00000312288.3:n.709+265G>A
ENST00000403312.5:c.886+265G>A	ENSP00000385638.2:n.886+265G>A
ENST00000505878.3:c.721+265G>A	ENSP00000425952.1:n.721+265G>A
ENST00000510728.5:n.336G>A
ENST00000515462.5:n.311G>A
ENST00000603302.5:c.709+265G>A	ENSP00000474560.1:n.709+265G>A
ENST00000626637.1:c.721+265G>A	ENSP00000486771.1:n.721+265G>A
NM_001184705.2:c.709+265G>A	NP_001171634.2:n.709+265G>A
NM_005327.4:c.709+265G>A	NP_005318.3:n.709+265G>A
XM_005262972.1:c.721+265G>A	XP_005263029.1:n.721+265G>A
XR_938726.1:n.1123G>A
NM_001331027.1:c.721+265G>A	NP_001317956.1:n.721+265G>A
XR_001741214.2:n.890G>A
XR_002959727.1:n.1068G>A
NM_001184705.3:c.709+265G>A	NP_001171634.2:n.709+265G>A
NM_005327.7:c.709+265G>A MANE Select	NP_005318.6:n.709+265G>A
NM_001184705.4:c.709+265G>A	NP_001171634.3:n.709+265G>A
NM_001331027.2:c.721+265G>A	NP_001317956.2:n.721+265G>A