Canonical Allele Identifier: CA2671694370

Gene: HADH

Linked Data

• gnomAD v4: 4-108028009-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108028009G>A , CM000666.2:g.108028009G>A	GRCh38
NC_000004.11:g.108949165G>A , CM000666.1:g.108949165G>A	GRCh37
NC_000004.10:g.109168614G>A	NCBI36
NG_008156.2:g.43226G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.5168G>A
ENST00000510728.6:n.1768G>A
ENST00000514776.3:n.391G>A
ENST00000515462.7:n.2145G>A
ENST00000626637.2:c.721+249G>A	ENSP00000486771.1:n.721+249G>A
ENST00000638648.2:c.*42G>A	ENSP00000507949.1:n.*42G>A
ENST00000640201.2:n.1044G>A
ENST00000640752.2:n.4919+249G>A
ENST00000682067.1:c.542+249G>A
ENST00000682086.1:n.1027G>A
ENST00000682373.1:c.368+249G>A
ENST00000684696.1:c.707G>A	ENSP00000507675.1:p.Ser236Asn
ENST00000309522.8:c.709+249G>A MANE Select	ENSP00000312288.4:n.709+249G>A
ENST00000403312.6:c.709+249G>A	ENSP00000385638.3:n.709+249G>A
ENST00000505878.4:c.886+249G>A	ENSP00000425952.2:n.886+249G>A
ENST00000514776.2:n.391G>A
ENST00000515462.6:n.2145G>A
ENST00000638559.1:c.567+249G>A
ENST00000638621.1:c.295+249G>A	ENSP00000491581.1:n.295+249G>A
ENST00000638648.1:n.860+249G>A
ENST00000639146.1:c.*42G>A	ENSP00000492345.1:n.*42G>A
ENST00000639335.1:c.*144+249G>A	ENSP00000491310.1:n.*144+249G>A
ENST00000639698.1:c.516+4446G>A	ENSP00000492420.1:n.516+4446G>A
ENST00000639784.1:c.373+4446G>A
ENST00000640048.1:c.681+249G>A	ENSP00000492009.1:n.681+249G>A
ENST00000640060.1:c.*804+249G>A	ENSP00000492734.1:n.*804+249G>A
ENST00000640201.1:n.913G>A
ENST00000640752.1:n.4912+249G>A
ENST00000309522.7:c.709+249G>A	ENSP00000312288.3:n.709+249G>A
ENST00000403312.5:c.886+249G>A	ENSP00000385638.2:n.886+249G>A
ENST00000505878.3:c.721+249G>A	ENSP00000425952.1:n.721+249G>A
ENST00000510728.5:n.320G>A
ENST00000515462.5:n.295G>A
ENST00000603302.5:c.709+249G>A	ENSP00000474560.1:n.709+249G>A
ENST00000626637.1:c.721+249G>A	ENSP00000486771.1:n.721+249G>A
NM_001184705.2:c.709+249G>A	NP_001171634.2:n.709+249G>A
NM_005327.4:c.709+249G>A	NP_005318.3:n.709+249G>A
XM_005262972.1:c.721+249G>A	XP_005263029.1:n.721+249G>A
XR_938726.1:n.1107G>A
NM_001331027.1:c.721+249G>A	NP_001317956.1:n.721+249G>A
XR_001741214.2:n.874G>A
XR_002959727.1:n.1052G>A
NM_001184705.3:c.709+249G>A	NP_001171634.2:n.709+249G>A
NM_005327.7:c.709+249G>A MANE Select	NP_005318.6:n.709+249G>A
NM_001184705.4:c.709+249G>A	NP_001171634.3:n.709+249G>A
NM_001331027.2:c.721+249G>A	NP_001317956.2:n.721+249G>A