Canonical Allele Identifier: CA357830905
Community Standard Title: NM_005327.7(HADH):c.261+1G>A
Gene: HADH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.108009888G>A , CM000666.2:g.108009888G>A GRCh38
NC_000004.11:g.108931044G>A , CM000666.1:g.108931044G>A GRCh37
NC_000004.10:g.109150493G>A NCBI36
NG_008156.2:g.25105G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005327.7:c.261+1G>A MANE Select NP_005318.6:n.261+1G>A
ENST00000309522.8:c.261+1G>A MANE Select ENSP00000312288.4:n.261+1G>A
NM_001184705.2:c.261+1G>A NP_001171634.2:n.261+1G>A
NM_001184705.3:c.261+1G>A NP_001171634.2:n.261+1G>A
NM_001184705.4:c.261+1G>A NP_001171634.3:n.261+1G>A
NM_001331027.1:c.273+1G>A NP_001317956.1:n.273+1G>A
NM_001331027.2:c.273+1G>A NP_001317956.2:n.273+1G>A
NM_005327.4:c.261+1G>A NP_005318.3:n.261+1G>A
ENST00000309522.7:c.261+1G>A ENSP00000312288.3:n.261+1G>A
ENST00000403312.5:c.438+1G>A ENSP00000385638.2:n.438+1G>A
ENST00000403312.6:c.261+1G>A ENSP00000385638.3:n.261+1G>A
ENST00000505878.3:c.273+1G>A ENSP00000425952.1:n.273+1G>A
ENST00000505878.4:c.438+1G>A ENSP00000425952.2:n.438+1G>A
ENST00000507260.2:n.304+1G>A
ENST00000507260.3:n.347+1G>A
ENST00000603302.5:c.261+1G>A ENSP00000474560.1:n.261+1G>A
ENST00000626637.1:c.273+1G>A ENSP00000486771.1:n.273+1G>A
ENST00000626637.2:c.273+1G>A ENSP00000486771.1:n.273+1G>A
ENST00000638559.1:c.120-4543G>A
ENST00000638621.1:c.133-13586G>A ENSP00000491581.1:n.133-13586G>A
ENST00000638648.1:n.412+1G>A
ENST00000638648.2:c.273+1G>A ENSP00000507949.1:n.273+1G>A
ENST00000639146.1:c.261+1G>A ENSP00000492345.1:n.261+1G>A
ENST00000639335.1:c.261+1G>A ENSP00000491310.1:n.261+1G>A
ENST00000639698.1:c.141+1G>A ENSP00000492420.1:n.141+1G>A
ENST00000639784.1:c.125+1G>A
ENST00000640048.1:c.99+1G>A ENSP00000492009.1:n.99+1G>A
ENST00000640060.1:c.*356+1G>A ENSP00000492734.1:n.*356+1G>A
ENST00000640201.1:n.216+1G>A
ENST00000640201.2:n.347+1G>A
ENST00000640586.1:c.550+1G>A
ENST00000640752.1:n.340+1G>A
ENST00000640752.2:n.347+1G>A
ENST00000681992.1:n.298+1G>A
ENST00000682067.1:c.221+1G>A
ENST00000682197.1:n.345+1G>A
ENST00000682373.1:c.205+1G>A
ENST00000684696.1:c.261+1G>A ENSP00000507675.1:n.261+1G>A
XM_005262972.1:c.273+1G>A XP_005263029.1:n.273+1G>A
XR_001741214.2:n.355+1G>A
XR_002959727.1:n.355+1G>A
XR_938726.1:n.410+1G>A