Canonical Allele Identifier: CA3037548

Gene: HADH

Linked Data

• dbSNP Id: rs746284096
• ExAC: 4:108948889 A / T
• MyVariant Identifiers: chr4:g.108948889A>T (hg19) ; chr4:g.108027733A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027733A>T , CM000666.2:g.108027733A>T	GRCh38
NC_000004.11:g.108948889A>T , CM000666.1:g.108948889A>T	GRCh37
NC_000004.10:g.109168338A>T	NCBI36
NG_008156.2:g.42950A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.4892A>T
ENST00000510728.6:n.1670A>T
ENST00000514776.3:n.115A>T
ENST00000515462.7:n.1869A>T
ENST00000626637.2:c.694A>T	ENSP00000486771.1:p.Met232Leu
ENST00000638648.2:c.694A>T	ENSP00000507949.1:p.Met232Leu
ENST00000640201.2:n.768A>T
ENST00000640752.2:n.4892A>T
ENST00000682067.1:c.515A>T
ENST00000682086.1:n.751A>T
ENST00000682373.1:c.341A>T
ENST00000684696.1:c.637-206A>T	ENSP00000507675.1:n.637-206A>T
ENST00000309522.8:c.682A>T MANE Select	ENSP00000312288.4:p.Met228Leu
ENST00000403312.6:c.682A>T	ENSP00000385638.3:p.Met228Leu
ENST00000505878.4:c.859A>T	ENSP00000425952.2:p.Met287Leu
ENST00000514776.2:n.115A>T
ENST00000515462.6:n.1869A>T
ENST00000638559.1:c.540A>T
ENST00000638621.1:c.268A>T	ENSP00000491581.1:p.Met90Leu
ENST00000638648.1:n.833A>T
ENST00000639146.1:c.682A>T	ENSP00000492345.1:p.Met228Leu
ENST00000639335.1:c.*117A>T	ENSP00000491310.1:n.*117A>T
ENST00000639698.1:c.516+4170A>T	ENSP00000492420.1:n.516+4170A>T
ENST00000639784.1:c.373+4170A>T
ENST00000640048.1:c.654A>T	ENSP00000492009.1:n.654A>T
ENST00000640060.1:c.*777A>T	ENSP00000492734.1:n.*777A>T
ENST00000640201.1:n.637A>T
ENST00000640752.1:n.4885A>T
ENST00000309522.7:c.682A>T	ENSP00000312288.3:p.Met228Leu
ENST00000403312.5:c.859A>T	ENSP00000385638.2:p.Met287Leu
ENST00000505878.3:c.694A>T	ENSP00000425952.1:p.Met232Leu
ENST00000507260.1:n.382A>T
ENST00000510728.5:n.222A>T
ENST00000515462.5:n.19A>T
ENST00000603302.5:c.682A>T	ENSP00000474560.1:p.Met228Leu
ENST00000626637.1:c.694A>T	ENSP00000486771.1:p.Met232Leu
NM_001184705.2:c.682A>T	NP_001171634.2:p.Met228Leu
NM_005327.4:c.682A>T	NP_005318.3:p.Met228Leu
XM_005262972.1:c.694A>T	XP_005263029.1:p.Met232Leu
XR_938726.1:n.831A>T
NM_001331027.1:c.694A>T	NP_001317956.1:p.Met232Leu
XR_001741214.2:n.776A>T
XR_002959727.1:n.776A>T
NM_001184705.3:c.682A>T	NP_001171634.2:p.Met228Leu
NM_005327.7:c.682A>T MANE Select	NP_005318.6:p.Met228Leu
NM_001184705.4:c.682A>T	NP_001171634.3:p.Met228Leu
NM_001331027.2:c.694A>T	NP_001317956.2:p.Met232Leu