Canonical Allele Identifier: CA254309

Gene: HADH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108033239C>T , CM000666.2:g.108033239C>T	GRCh38
NC_000004.11:g.108954395C>T , CM000666.1:g.108954395C>T	GRCh37
NC_000004.10:g.109173844C>T	NCBI36
NG_008156.2:g.48456C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005327.7:c.773C>T MANE Select	NP_005318.6:p.Pro258Leu
ENST00000309522.8:c.773C>T MANE Select	ENSP00000312288.4:p.Pro258Leu
NM_001184705.2:c.824C>T	NP_001171634.2:p.Pro275Leu
NM_001184705.3:c.824C>T	NP_001171634.2:p.Pro275Leu
NM_001184705.4:c.824C>T	NP_001171634.3:p.Pro275Leu
NM_001331027.1:c.785C>T	NP_001317956.1:p.Pro262Leu
NM_001331027.2:c.785C>T	NP_001317956.2:p.Pro262Leu
NM_005327.4:c.773C>T	NP_005318.3:p.Pro258Leu
ENST00000309522.7:c.773C>T	ENSP00000312288.3:p.Pro258Leu
ENST00000403312.5:c.1001C>T	ENSP00000385638.2:p.Pro334Leu
ENST00000403312.6:c.782C>T	ENSP00000385638.3:p.Pro261Leu
ENST00000505878.3:c.785C>T	ENSP00000425952.1:p.Pro262Leu
ENST00000505878.4:c.1001C>T	ENSP00000425952.2:p.Pro334Leu
ENST00000507260.3:n.5292C>T
ENST00000510728.5:n.444C>T
ENST00000510728.6:n.1892C>T
ENST00000514776.1:n.240C>T
ENST00000514776.2:n.5621C>T
ENST00000514776.3:n.5621C>T
ENST00000515462.5:n.419C>T
ENST00000515462.6:n.2269C>T
ENST00000515462.7:n.2269C>T
ENST00000603302.5:c.824C>T	ENSP00000474560.1:p.Pro275Leu
ENST00000626637.1:c.785C>T	ENSP00000486771.1:p.Pro262Leu
ENST00000626637.2:c.785C>T	ENSP00000486771.1:p.Pro262Leu
ENST00000638559.1:c.631C>T
ENST00000638621.1:c.359C>T	ENSP00000491581.1:p.Pro120Leu
ENST00000638648.1:n.924C>T
ENST00000638648.2:c.*166C>T	ENSP00000507949.1:n.*166C>T
ENST00000639146.1:c.*166C>T	ENSP00000492345.1:n.*166C>T
ENST00000639335.1:c.*208C>T	ENSP00000491310.1:n.*208C>T
ENST00000639698.1:c.580C>T	ENSP00000492420.1:n.580C>T
ENST00000639784.1:c.437C>T
ENST00000640048.1:c.745C>T	ENSP00000492009.1:n.745C>T
ENST00000640060.1:c.*868C>T	ENSP00000492734.1:n.*868C>T
ENST00000640201.1:n.1037C>T
ENST00000640201.2:n.1168C>T
ENST00000640752.1:n.4976C>T
ENST00000640752.2:n.4983C>T
ENST00000682067.1:c.606C>T
ENST00000682086.1:n.1151C>T
ENST00000682373.1:c.432C>T
ENST00000684696.1:c.*93C>T	ENSP00000507675.1:n.*93C>T
XM_005262972.1:c.785C>T	XP_005263029.1:p.Pro262Leu
XR_001741214.2:n.998C>T
XR_002959727.1:n.1176C>T
XR_938726.1:n.1231C>T