Canonical Allele Identifier: CA3037611

Gene: HADH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108033162C>T , CM000666.2:g.108033162C>T	GRCh38
NC_000004.11:g.108954318C>T , CM000666.1:g.108954318C>T	GRCh37
NC_000004.10:g.109173767C>T	NCBI36
NG_008156.2:g.48379C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005327.7:c.710-14C>T MANE Select	NP_005318.6:n.710-14C>T
ENST00000309522.8:c.710-14C>T MANE Select	ENSP00000312288.4:n.710-14C>T
NM_001184705.2:c.761-14C>T	NP_001171634.2:n.761-14C>T
NM_001184705.3:c.761-14C>T	NP_001171634.2:n.761-14C>T
NM_001184705.4:c.761-14C>T	NP_001171634.3:n.761-14C>T
NM_001331027.1:c.722-14C>T	NP_001317956.1:n.722-14C>T
NM_001331027.2:c.722-14C>T	NP_001317956.2:n.722-14C>T
NM_005327.4:c.710-14C>T	NP_005318.3:n.710-14C>T
ENST00000309522.7:c.710-14C>T	ENSP00000312288.3:n.710-14C>T
ENST00000403312.5:c.938-14C>T	ENSP00000385638.2:n.938-14C>T
ENST00000403312.6:c.719-14C>T	ENSP00000385638.3:n.719-14C>T
ENST00000505878.3:c.722-14C>T	ENSP00000425952.1:n.722-14C>T
ENST00000505878.4:c.938-14C>T	ENSP00000425952.2:n.938-14C>T
ENST00000507260.3:n.5229-14C>T
ENST00000510728.5:n.381-14C>T
ENST00000510728.6:n.1829-14C>T
ENST00000514776.1:n.163C>T
ENST00000514776.2:n.5544C>T
ENST00000514776.3:n.5544C>T
ENST00000515462.5:n.356-14C>T
ENST00000515462.6:n.2206-14C>T
ENST00000515462.7:n.2206-14C>T
ENST00000603302.5:c.761-14C>T	ENSP00000474560.1:n.761-14C>T
ENST00000626637.1:c.722-14C>T	ENSP00000486771.1:n.722-14C>T
ENST00000626637.2:c.722-14C>T	ENSP00000486771.1:n.722-14C>T
ENST00000638559.1:c.568-14C>T
ENST00000638621.1:c.296-14C>T	ENSP00000491581.1:n.296-14C>T
ENST00000638648.1:n.861-14C>T
ENST00000638648.2:c.*103-14C>T	ENSP00000507949.1:n.*103-14C>T
ENST00000639146.1:c.*103-14C>T	ENSP00000492345.1:n.*103-14C>T
ENST00000639335.1:c.*145-14C>T	ENSP00000491310.1:n.*145-14C>T
ENST00000639698.1:c.517-14C>T	ENSP00000492420.1:n.517-14C>T
ENST00000639784.1:c.374-14C>T
ENST00000640048.1:c.682-14C>T	ENSP00000492009.1:n.682-14C>T
ENST00000640060.1:c.*805-14C>T	ENSP00000492734.1:n.*805-14C>T
ENST00000640201.1:n.974-14C>T
ENST00000640201.2:n.1105-14C>T
ENST00000640752.1:n.4913-14C>T
ENST00000640752.2:n.4920-14C>T
ENST00000682067.1:c.543-14C>T
ENST00000682086.1:n.1088-14C>T
ENST00000682373.1:c.369-14C>T
ENST00000684696.1:c.*30-14C>T	ENSP00000507675.1:n.*30-14C>T
XM_005262972.1:c.722-14C>T	XP_005263029.1:n.722-14C>T
XR_001741214.2:n.935-14C>T
XR_002959727.1:n.1113-14C>T
XR_938726.1:n.1168-14C>T