Canonical Allele Identifier: CA3037373
Community Standard Title: NM_005327.7(HADH):c.133-15C>T
Gene: HADH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.108009744C>T , CM000666.2:g.108009744C>T GRCh38
NC_000004.11:g.108930900C>T , CM000666.1:g.108930900C>T GRCh37
NC_000004.10:g.109150349C>T NCBI36
NG_008156.2:g.24961C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005327.7:c.133-15C>T MANE Select NP_005318.6:n.133-15C>T
ENST00000309522.8:c.133-15C>T MANE Select ENSP00000312288.4:n.133-15C>T
NM_001184705.2:c.133-15C>T NP_001171634.2:n.133-15C>T
NM_001184705.3:c.133-15C>T NP_001171634.2:n.133-15C>T
NM_001184705.4:c.133-15C>T NP_001171634.3:n.133-15C>T
NM_001331027.1:c.145-15C>T NP_001317956.1:n.145-15C>T
NM_001331027.2:c.145-15C>T NP_001317956.2:n.145-15C>T
NM_005327.4:c.133-15C>T NP_005318.3:n.133-15C>T
ENST00000309522.7:c.133-15C>T ENSP00000312288.3:n.133-15C>T
ENST00000403312.5:c.310-15C>T ENSP00000385638.2:n.310-15C>T
ENST00000403312.6:c.133-15C>T ENSP00000385638.3:n.133-15C>T
ENST00000505878.3:c.145-15C>T ENSP00000425952.1:n.145-15C>T
ENST00000505878.4:c.310-15C>T ENSP00000425952.2:n.310-15C>T
ENST00000507260.2:n.176-15C>T
ENST00000507260.3:n.219-15C>T
ENST00000603302.5:c.133-15C>T ENSP00000474560.1:n.133-15C>T
ENST00000626637.1:c.145-15C>T ENSP00000486771.1:n.145-15C>T
ENST00000626637.2:c.145-15C>T ENSP00000486771.1:n.145-15C>T
ENST00000638559.1:c.120-4687C>T
ENST00000638621.1:c.133-13730C>T ENSP00000491581.1:n.133-13730C>T
ENST00000638648.1:n.284-15C>T
ENST00000638648.2:c.145-15C>T ENSP00000507949.1:n.145-15C>T
ENST00000639146.1:c.133-15C>T ENSP00000492345.1:n.133-15C>T
ENST00000639335.1:c.133-15C>T ENSP00000491310.1:n.133-15C>T
ENST00000639698.1:c.13-15C>T ENSP00000492420.1:n.13-15C>T
ENST00000640060.1:c.*228-15C>T ENSP00000492734.1:n.*228-15C>T
ENST00000640201.1:n.88-15C>T
ENST00000640201.2:n.219-15C>T
ENST00000640586.1:c.422-15C>T
ENST00000640752.1:n.212-15C>T
ENST00000640752.2:n.219-15C>T
ENST00000681992.1:n.170-15C>T
ENST00000682067.1:c.93-15C>T
ENST00000682197.1:n.217-15C>T
ENST00000682373.1:c.77-15C>T
ENST00000684696.1:c.133-15C>T ENSP00000507675.1:n.133-15C>T
XM_005262972.1:c.145-15C>T XP_005263029.1:n.145-15C>T
XR_001741214.2:n.227-15C>T
XR_002959727.1:n.227-15C>T
XR_938726.1:n.282-15C>T