Canonical Allele Identifier: CA2671694348

Gene: HADH

Linked Data

• gnomAD v4: 4-108027989-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027989C>T , CM000666.2:g.108027989C>T	GRCh38
NC_000004.11:g.108949145C>T , CM000666.1:g.108949145C>T	GRCh37
NC_000004.10:g.109168594C>T	NCBI36
NG_008156.2:g.43206C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.5148C>T
ENST00000510728.6:n.1748C>T
ENST00000514776.3:n.371C>T
ENST00000515462.7:n.2125C>T
ENST00000626637.2:c.721+229C>T	ENSP00000486771.1:n.721+229C>T
ENST00000638648.2:c.*22C>T	ENSP00000507949.1:n.*22C>T
ENST00000640201.2:n.1024C>T
ENST00000640752.2:n.4919+229C>T
ENST00000682067.1:c.542+229C>T
ENST00000682086.1:n.1007C>T
ENST00000682373.1:c.368+229C>T
ENST00000684696.1:c.687C>T	ENSP00000507675.1:p.His229=
ENST00000309522.8:c.709+229C>T MANE Select	ENSP00000312288.4:n.709+229C>T
ENST00000403312.6:c.709+229C>T	ENSP00000385638.3:n.709+229C>T
ENST00000505878.4:c.886+229C>T	ENSP00000425952.2:n.886+229C>T
ENST00000514776.2:n.371C>T
ENST00000515462.6:n.2125C>T
ENST00000638559.1:c.567+229C>T
ENST00000638621.1:c.295+229C>T	ENSP00000491581.1:n.295+229C>T
ENST00000638648.1:n.860+229C>T
ENST00000639146.1:c.*22C>T	ENSP00000492345.1:n.*22C>T
ENST00000639335.1:c.*144+229C>T	ENSP00000491310.1:n.*144+229C>T
ENST00000639698.1:c.516+4426C>T	ENSP00000492420.1:n.516+4426C>T
ENST00000639784.1:c.373+4426C>T
ENST00000640048.1:c.681+229C>T	ENSP00000492009.1:n.681+229C>T
ENST00000640060.1:c.*804+229C>T	ENSP00000492734.1:n.*804+229C>T
ENST00000640201.1:n.893C>T
ENST00000640752.1:n.4912+229C>T
ENST00000309522.7:c.709+229C>T	ENSP00000312288.3:n.709+229C>T
ENST00000403312.5:c.886+229C>T	ENSP00000385638.2:n.886+229C>T
ENST00000505878.3:c.721+229C>T	ENSP00000425952.1:n.721+229C>T
ENST00000510728.5:n.300C>T
ENST00000515462.5:n.275C>T
ENST00000603302.5:c.709+229C>T	ENSP00000474560.1:n.709+229C>T
ENST00000626637.1:c.721+229C>T	ENSP00000486771.1:n.721+229C>T
NM_001184705.2:c.709+229C>T	NP_001171634.2:n.709+229C>T
NM_005327.4:c.709+229C>T	NP_005318.3:n.709+229C>T
XM_005262972.1:c.721+229C>T	XP_005263029.1:n.721+229C>T
XR_938726.1:n.1087C>T
NM_001331027.1:c.721+229C>T	NP_001317956.1:n.721+229C>T
XR_001741214.2:n.854C>T
XR_002959727.1:n.1032C>T
NM_001184705.3:c.709+229C>T	NP_001171634.2:n.709+229C>T
NM_005327.7:c.709+229C>T MANE Select	NP_005318.6:n.709+229C>T
NM_001184705.4:c.709+229C>T	NP_001171634.3:n.709+229C>T
NM_001331027.2:c.721+229C>T	NP_001317956.2:n.721+229C>T