Canonical Allele Identifier: CA3037321

Gene: HADH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.107990004G>A , CM000666.2:g.107990004G>A	GRCh38
NC_000004.11:g.108911160G>A , CM000666.1:g.108911160G>A	GRCh37
NC_000004.10:g.109130609G>A	NCBI36
NG_008156.2:g.5221G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005327.7:c.72G>A MANE Select	NP_005318.6:p.Lys24=
ENST00000309522.8:c.72G>A MANE Select	ENSP00000312288.4:p.Lys24=
NM_001184705.2:c.72G>A	NP_001171634.2:p.Lys24=
NM_001184705.3:c.72G>A	NP_001171634.2:p.Lys24=
NM_001184705.4:c.72G>A	NP_001171634.3:p.Lys24=
NM_005327.4:c.72G>A	NP_005318.3:p.Lys24=
ENST00000309522.7:c.72G>A	ENSP00000312288.3:p.Lys24=
ENST00000403312.5:c.249G>A	ENSP00000385638.2:p.Lys83=
ENST00000403312.6:c.72G>A	ENSP00000385638.3:p.Lys24=
ENST00000505878.3:c.-171G>A	ENSP00000425952.1:n.-171G>A
ENST00000505878.4:c.249G>A	ENSP00000425952.2:p.Lys83=
ENST00000507260.2:n.115G>A
ENST00000507260.3:n.158G>A
ENST00000511742.1:c.72G>A	ENSP00000425254.1:p.Lys24=
ENST00000603302.5:c.72G>A	ENSP00000474560.1:p.Lys24=
ENST00000638559.1:c.59G>A
ENST00000638621.1:c.72G>A	ENSP00000491581.1:p.Lys24=
ENST00000639013.1:n.147G>A
ENST00000639146.1:c.72G>A	ENSP00000492345.1:p.Lys24=
ENST00000639335.1:c.72G>A	ENSP00000491310.1:p.Lys24=
ENST00000640060.1:c.72G>A	ENSP00000492734.1:p.Lys24=
ENST00000640201.1:n.27G>A
ENST00000640201.2:n.158G>A
ENST00000640752.1:n.151G>A
ENST00000640752.2:n.158G>A
ENST00000681992.1:n.109G>A
ENST00000682197.1:n.156G>A
ENST00000682373.1:c.16G>A
ENST00000684696.1:c.72G>A	ENSP00000507675.1:p.Lys24=
XR_001741214.2:n.166G>A
XR_002959727.1:n.166G>A
XR_938726.1:n.221G>A