Canonical Allele Identifier: CA205273
Gene: HADH HGNC NCBI

Linked Data

ClinVar Variation Id: 211125
dbSNP Id: rs534966818

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.107990071G>T , CM000666.2:g.107990071G>T GRCh38
NC_000004.11:g.108911227G>T , CM000666.1:g.108911227G>T GRCh37
NC_000004.10:g.109130676G>T NCBI36
NG_008156.2:g.5288G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000507260.3:n.218+7G>T
ENST00000640201.2:n.218+7G>T
ENST00000640752.2:n.218+7G>T
ENST00000681992.1:n.169+7G>T
ENST00000682197.1:n.216+7G>T
ENST00000682373.1:c.76+7G>T
ENST00000684696.1:c.132+7G>T ENSP00000507675.1:n.132+7G>T
ENST00000309522.8:c.132+7G>T MANE Select ENSP00000312288.4:n.132+7G>T
ENST00000403312.6:c.132+7G>T ENSP00000385638.3:n.132+7G>T
ENST00000505878.4:c.309+7G>T ENSP00000425952.2:n.309+7G>T
ENST00000507260.2:n.175+7G>T
ENST00000638559.1:c.119+7G>T
ENST00000638621.1:c.132+7G>T ENSP00000491581.1:n.132+7G>T
ENST00000639013.1:n.207+7G>T
ENST00000639146.1:c.132+7G>T ENSP00000492345.1:n.132+7G>T
ENST00000639335.1:c.132+7G>T ENSP00000491310.1:n.132+7G>T
ENST00000639698.1:c.12+7G>T ENSP00000492420.1:n.12+7G>T
ENST00000640060.1:c.132+7G>T ENSP00000492734.1:n.132+7G>T
ENST00000640201.1:n.87+7G>T
ENST00000640586.1:c.49+7G>T
ENST00000640752.1:n.211+7G>T
ENST00000309522.7:c.132+7G>T ENSP00000312288.3:n.132+7G>T
ENST00000403312.5:c.309+7G>T ENSP00000385638.2:n.309+7G>T
ENST00000505878.3:c.-111+7G>T ENSP00000425952.1:n.-111+7G>T
ENST00000511742.1:c.132+7G>T ENSP00000425254.1:n.132+7G>T
ENST00000603302.5:c.132+7G>T ENSP00000474560.1:n.132+7G>T
NM_001184705.2:c.132+7G>T NP_001171634.2:n.132+7G>T
NM_005327.4:c.132+7G>T NP_005318.3:n.132+7G>T
XR_938726.1:n.281+7G>T
XR_001741214.2:n.226+7G>T
XR_002959727.1:n.226+7G>T
NM_001184705.3:c.132+7G>T NP_001171634.2:n.132+7G>T
NM_005327.7:c.132+7G>T MANE Select NP_005318.6:n.132+7G>T
NM_001184705.4:c.132+7G>T NP_001171634.3:n.132+7G>T