Canonical Allele Identifier: CA3037326

Gene: HADH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.107990031C>G , CM000666.2:g.107990031C>G	GRCh38
NC_000004.11:g.108911187C>G , CM000666.1:g.108911187C>G	GRCh37
NC_000004.10:g.109130636C>G	NCBI36
NG_008156.2:g.5248C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005327.7:c.99C>G MANE Select	NP_005318.6:p.Ile33Met
ENST00000309522.8:c.99C>G MANE Select	ENSP00000312288.4:p.Ile33Met
NM_001184705.2:c.99C>G	NP_001171634.2:p.Ile33Met
NM_001184705.3:c.99C>G	NP_001171634.2:p.Ile33Met
NM_001184705.4:c.99C>G	NP_001171634.3:p.Ile33Met
NM_005327.4:c.99C>G	NP_005318.3:p.Ile33Met
ENST00000309522.7:c.99C>G	ENSP00000312288.3:p.Ile33Met
ENST00000403312.5:c.276C>G	ENSP00000385638.2:p.Ile92Met
ENST00000403312.6:c.99C>G	ENSP00000385638.3:p.Ile33Met
ENST00000505878.3:c.-144C>G	ENSP00000425952.1:n.-144C>G
ENST00000505878.4:c.276C>G	ENSP00000425952.2:p.Ile92Met
ENST00000507260.2:n.142C>G
ENST00000507260.3:n.185C>G
ENST00000511742.1:c.99C>G	ENSP00000425254.1:p.Ile33Met
ENST00000603302.5:c.99C>G	ENSP00000474560.1:p.Ile33Met
ENST00000638559.1:c.86C>G
ENST00000638621.1:c.99C>G	ENSP00000491581.1:p.Ile33Met
ENST00000639013.1:n.174C>G
ENST00000639146.1:c.99C>G	ENSP00000492345.1:p.Ile33Met
ENST00000639335.1:c.99C>G	ENSP00000491310.1:p.Ile33Met
ENST00000640060.1:c.99C>G	ENSP00000492734.1:p.Ile33Met
ENST00000640201.1:n.54C>G
ENST00000640201.2:n.185C>G
ENST00000640586.1:c.16C>G
ENST00000640752.1:n.178C>G
ENST00000640752.2:n.185C>G
ENST00000681992.1:n.136C>G
ENST00000682197.1:n.183C>G
ENST00000682373.1:c.43C>G
ENST00000684696.1:c.99C>G	ENSP00000507675.1:p.Ile33Met
XR_001741214.2:n.193C>G
XR_002959727.1:n.193C>G
XR_938726.1:n.248C>G