Canonical Allele Identifier: CA3037296

Gene: HADH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.107989897C>T , CM000666.2:g.107989897C>T	GRCh38
NC_000004.11:g.108911053C>T , CM000666.1:g.108911053C>T	GRCh37
NC_000004.10:g.109130502C>T	NCBI36
NG_008156.2:g.5114C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005327.7:c.-36C>T MANE Select	NP_005318.6:n.-36C>T
ENST00000309522.8:c.-36C>T MANE Select	ENSP00000312288.4:n.-36C>T
NM_001184705.2:c.-36C>T	NP_001171634.2:n.-36C>T
NM_001184705.3:c.-36C>T	NP_001171634.2:n.-36C>T
NM_001184705.4:c.-36C>T	NP_001171634.3:n.-36C>T
NM_005327.4:c.-36C>T	NP_005318.3:n.-36C>T
ENST00000309522.7:c.-36C>T	ENSP00000312288.3:n.-36C>T
ENST00000403312.5:c.142C>T	ENSP00000385638.2:p.Pro48Ser
ENST00000403312.6:c.-36C>T	ENSP00000385638.3:n.-36C>T
ENST00000505878.4:c.142C>T	ENSP00000425952.2:p.Pro48Ser
ENST00000507260.2:n.8C>T
ENST00000507260.3:n.51C>T
ENST00000511742.1:c.-36C>T	ENSP00000425254.1:n.-36C>T
ENST00000603302.5:c.-36C>T	ENSP00000474560.1:n.-36C>T
ENST00000638621.1:c.-36C>T	ENSP00000491581.1:n.-36C>T
ENST00000639013.1:n.40C>T
ENST00000639146.1:c.-36C>T	ENSP00000492345.1:n.-36C>T
ENST00000639335.1:c.-36C>T	ENSP00000491310.1:n.-36C>T
ENST00000640201.2:n.51C>T
ENST00000640752.1:n.44C>T
ENST00000640752.2:n.51C>T
ENST00000681992.1:n.2C>T
ENST00000682197.1:n.49C>T
ENST00000684696.1:c.-36C>T	ENSP00000507675.1:n.-36C>T
XR_001741214.2:n.59C>T
XR_002959727.1:n.59C>T
XR_938726.1:n.114C>T