Canonical Allele Identifier: CA3037542

Gene: HADH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027694C>A , CM000666.2:g.108027694C>A	GRCh38
NC_000004.11:g.108948850C>A , CM000666.1:g.108948850C>A	GRCh37
NC_000004.10:g.109168299C>A	NCBI36
NG_008156.2:g.42911C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005327.7:c.643C>A MANE Select	NP_005318.6:p.Pro215Thr
ENST00000309522.8:c.643C>A MANE Select	ENSP00000312288.4:p.Pro215Thr
NM_001184705.2:c.643C>A	NP_001171634.2:p.Pro215Thr
NM_001184705.3:c.643C>A	NP_001171634.2:p.Pro215Thr
NM_001184705.4:c.643C>A	NP_001171634.3:p.Pro215Thr
NM_001331027.1:c.655C>A	NP_001317956.1:p.Pro219Thr
NM_001331027.2:c.655C>A	NP_001317956.2:p.Pro219Thr
NM_005327.4:c.643C>A	NP_005318.3:p.Pro215Thr
ENST00000309522.7:c.643C>A	ENSP00000312288.3:p.Pro215Thr
ENST00000403312.5:c.820C>A	ENSP00000385638.2:p.Pro274Thr
ENST00000403312.6:c.643C>A	ENSP00000385638.3:p.Pro215Thr
ENST00000505878.3:c.655C>A	ENSP00000425952.1:p.Pro219Thr
ENST00000505878.4:c.820C>A	ENSP00000425952.2:p.Pro274Thr
ENST00000507260.1:n.343C>A
ENST00000507260.3:n.4853C>A
ENST00000510728.5:n.183C>A
ENST00000510728.6:n.1631C>A
ENST00000514776.2:n.76C>A
ENST00000514776.3:n.76C>A
ENST00000515462.6:n.1830C>A
ENST00000515462.7:n.1830C>A
ENST00000603302.5:c.643C>A	ENSP00000474560.1:p.Pro215Thr
ENST00000626637.1:c.655C>A	ENSP00000486771.1:p.Pro219Thr
ENST00000626637.2:c.655C>A	ENSP00000486771.1:p.Pro219Thr
ENST00000638559.1:c.501C>A
ENST00000638621.1:c.229C>A	ENSP00000491581.1:p.Pro77Thr
ENST00000638648.1:n.794C>A
ENST00000638648.2:c.655C>A	ENSP00000507949.1:p.Pro219Thr
ENST00000639146.1:c.643C>A	ENSP00000492345.1:p.Pro215Thr
ENST00000639335.1:c.*78C>A	ENSP00000491310.1:n.*78C>A
ENST00000639698.1:c.516+4131C>A	ENSP00000492420.1:n.516+4131C>A
ENST00000639784.1:c.373+4131C>A
ENST00000640048.1:c.615C>A	ENSP00000492009.1:n.615C>A
ENST00000640060.1:c.*738C>A	ENSP00000492734.1:n.*738C>A
ENST00000640201.1:n.598C>A
ENST00000640201.2:n.729C>A
ENST00000640752.1:n.4846C>A
ENST00000640752.2:n.4853C>A
ENST00000682067.1:c.476C>A
ENST00000682086.1:n.712C>A
ENST00000682373.1:c.302C>A
ENST00000684696.1:c.637-245C>A	ENSP00000507675.1:n.637-245C>A
XM_005262972.1:c.655C>A	XP_005263029.1:p.Pro219Thr
XR_001741214.2:n.737C>A
XR_002959727.1:n.737C>A
XR_938726.1:n.792C>A