Canonical Allele Identifier: CA3037583

Gene: HADH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108032354C>T , CM000666.2:g.108032354C>T	GRCh38
NC_000004.11:g.108953510C>T , CM000666.1:g.108953510C>T	GRCh37
NC_000004.10:g.109172959C>T	NCBI36
NG_008156.2:g.47571C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005327.7:c.710-822C>T MANE Select	NP_005318.6:n.710-822C>T
ENST00000309522.8:c.710-822C>T MANE Select	ENSP00000312288.4:n.710-822C>T
NM_001184705.2:c.737C>T	NP_001171634.2:p.Ser246Leu
NM_001184705.3:c.737C>T	NP_001171634.2:p.Ser246Leu
NM_001184705.4:c.737C>T	NP_001171634.3:p.Ser246Leu
NM_001331027.1:c.722-822C>T	NP_001317956.1:n.722-822C>T
NM_001331027.2:c.722-822C>T	NP_001317956.2:n.722-822C>T
NM_005327.4:c.710-822C>T	NP_005318.3:n.710-822C>T
ENST00000309522.7:c.710-822C>T	ENSP00000312288.3:n.710-822C>T
ENST00000403312.5:c.914C>T	ENSP00000385638.2:p.Ser305Leu
ENST00000403312.6:c.719-822C>T	ENSP00000385638.3:n.719-822C>T
ENST00000505878.3:c.722-822C>T	ENSP00000425952.1:n.722-822C>T
ENST00000505878.4:c.914C>T	ENSP00000425952.2:p.Ser305Leu
ENST00000507260.3:n.5229-822C>T
ENST00000510728.5:n.381-822C>T
ENST00000510728.6:n.1829-822C>T
ENST00000514776.2:n.4736C>T
ENST00000514776.3:n.4736C>T
ENST00000515462.5:n.356-822C>T
ENST00000515462.6:n.2206-822C>T
ENST00000515462.7:n.2206-822C>T
ENST00000603302.5:c.737C>T	ENSP00000474560.1:p.Ser246Leu
ENST00000626637.1:c.722-822C>T	ENSP00000486771.1:n.722-822C>T
ENST00000626637.2:c.722-822C>T	ENSP00000486771.1:n.722-822C>T
ENST00000638559.1:c.568-822C>T
ENST00000638621.1:c.296-822C>T	ENSP00000491581.1:n.296-822C>T
ENST00000638648.1:n.861-822C>T
ENST00000638648.2:c.*103-822C>T	ENSP00000507949.1:n.*103-822C>T
ENST00000639146.1:c.*103-822C>T	ENSP00000492345.1:n.*103-822C>T
ENST00000639335.1:c.*145-822C>T	ENSP00000491310.1:n.*145-822C>T
ENST00000639698.1:c.517-822C>T	ENSP00000492420.1:n.517-822C>T
ENST00000639784.1:c.374-822C>T
ENST00000640048.1:c.682-822C>T	ENSP00000492009.1:n.682-822C>T
ENST00000640060.1:c.*805-822C>T	ENSP00000492734.1:n.*805-822C>T
ENST00000640201.1:n.974-822C>T
ENST00000640201.2:n.1105-822C>T
ENST00000640752.1:n.4913-822C>T
ENST00000640752.2:n.4920-822C>T
ENST00000682067.1:c.543-822C>T
ENST00000682086.1:n.1088-822C>T
ENST00000682373.1:c.369-822C>T
ENST00000684696.1:c.*30-822C>T	ENSP00000507675.1:n.*30-822C>T
XM_005262972.1:c.722-822C>T	XP_005263029.1:n.722-822C>T
XR_001741214.2:n.935-822C>T
XR_002959727.1:n.1113-822C>T
XR_938726.1:n.1168-822C>T