Canonical Allele Identifier: CA3037415
Community Standard Title: NM_005327.7(HADH):c.262-2A>G
Gene: HADH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.108014429A>G , CM000666.2:g.108014429A>G GRCh38
NC_000004.11:g.108935585A>G , CM000666.1:g.108935585A>G GRCh37
NC_000004.10:g.109155034A>G NCBI36
NG_008156.2:g.29646A>G

Transcript Alleles

HGVS Amino-acid Change
NM_005327.7:c.262-2A>G MANE Select NP_005318.6:n.262-2A>G
ENST00000309522.8:c.262-2A>G MANE Select ENSP00000312288.4:n.262-2A>G
NM_001184705.2:c.262-2A>G NP_001171634.2:n.262-2A>G
NM_001184705.3:c.262-2A>G NP_001171634.2:n.262-2A>G
NM_001184705.4:c.262-2A>G NP_001171634.3:n.262-2A>G
NM_001331027.1:c.274-2A>G NP_001317956.1:n.274-2A>G
NM_001331027.2:c.274-2A>G NP_001317956.2:n.274-2A>G
NM_005327.4:c.262-2A>G NP_005318.3:n.262-2A>G
ENST00000309522.7:c.262-2A>G ENSP00000312288.3:n.262-2A>G
ENST00000403312.5:c.439-2A>G ENSP00000385638.2:n.439-2A>G
ENST00000403312.6:c.262-2A>G ENSP00000385638.3:n.262-2A>G
ENST00000505878.3:c.274-2A>G ENSP00000425952.1:n.274-2A>G
ENST00000505878.4:c.439-2A>G ENSP00000425952.2:n.439-2A>G
ENST00000507260.2:n.305-2A>G
ENST00000507260.3:n.348-2A>G
ENST00000603302.5:c.262-2A>G ENSP00000474560.1:n.262-2A>G
ENST00000626637.1:c.274-2A>G ENSP00000486771.1:n.274-2A>G
ENST00000626637.2:c.274-2A>G ENSP00000486771.1:n.274-2A>G
ENST00000638559.1:c.120-2A>G
ENST00000638621.1:c.133-9045A>G ENSP00000491581.1:n.133-9045A>G
ENST00000638648.1:n.413-2A>G
ENST00000638648.2:c.274-2A>G ENSP00000507949.1:n.274-2A>G
ENST00000639146.1:c.262-2A>G ENSP00000492345.1:n.262-2A>G
ENST00000639335.1:c.262-2A>G ENSP00000491310.1:n.262-2A>G
ENST00000639698.1:c.142-2A>G ENSP00000492420.1:n.142-2A>G
ENST00000639784.1:c.126-2A>G
ENST00000640048.1:c.100-2A>G ENSP00000492009.1:n.100-2A>G
ENST00000640060.1:c.*357-2A>G ENSP00000492734.1:n.*357-2A>G
ENST00000640201.1:n.217-2A>G
ENST00000640201.2:n.348-2A>G
ENST00000640586.1:c.551-2A>G
ENST00000640752.1:n.341-2A>G
ENST00000640752.2:n.348-2A>G
ENST00000681992.1:n.299-2A>G
ENST00000682067.1:c.222-2A>G
ENST00000682197.1:n.346-2A>G
ENST00000682373.1:c.205+4542A>G
ENST00000684696.1:c.262-2A>G ENSP00000507675.1:n.262-2A>G
XM_005262972.1:c.274-2A>G XP_005263029.1:n.274-2A>G
XR_001741214.2:n.356-2A>G
XR_002959727.1:n.356-2A>G
XR_938726.1:n.411-2A>G