Canonical Allele Identifier: CA2671694310

Gene: HADH

Linked Data

• gnomAD v4: 4-108027952-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027952C>T , CM000666.2:g.108027952C>T	GRCh38
NC_000004.11:g.108949108C>T , CM000666.1:g.108949108C>T	GRCh37
NC_000004.10:g.109168557C>T	NCBI36
NG_008156.2:g.43169C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.5111C>T
ENST00000510728.6:n.1711C>T
ENST00000514776.3:n.334C>T
ENST00000515462.7:n.2088C>T
ENST00000626637.2:c.721+192C>T	ENSP00000486771.1:n.721+192C>T
ENST00000638648.2:c.735C>T	ENSP00000507949.1:p.Phe245=
ENST00000640201.2:n.987C>T
ENST00000640752.2:n.4919+192C>T
ENST00000682067.1:c.542+192C>T
ENST00000682086.1:n.970C>T
ENST00000682373.1:c.368+192C>T
ENST00000684696.1:c.650C>T	ENSP00000507675.1:p.Ser217Phe
ENST00000309522.8:c.709+192C>T MANE Select	ENSP00000312288.4:n.709+192C>T
ENST00000403312.6:c.709+192C>T	ENSP00000385638.3:n.709+192C>T
ENST00000505878.4:c.886+192C>T	ENSP00000425952.2:n.886+192C>T
ENST00000514776.2:n.334C>T
ENST00000515462.6:n.2088C>T
ENST00000638559.1:c.567+192C>T
ENST00000638621.1:c.295+192C>T	ENSP00000491581.1:n.295+192C>T
ENST00000638648.1:n.860+192C>T
ENST00000639146.1:c.723C>T	ENSP00000492345.1:p.Phe241=
ENST00000639335.1:c.*144+192C>T	ENSP00000491310.1:n.*144+192C>T
ENST00000639698.1:c.516+4389C>T	ENSP00000492420.1:n.516+4389C>T
ENST00000639784.1:c.373+4389C>T
ENST00000640048.1:c.681+192C>T	ENSP00000492009.1:n.681+192C>T
ENST00000640060.1:c.*804+192C>T	ENSP00000492734.1:n.*804+192C>T
ENST00000640201.1:n.856C>T
ENST00000640752.1:n.4912+192C>T
ENST00000309522.7:c.709+192C>T	ENSP00000312288.3:n.709+192C>T
ENST00000403312.5:c.886+192C>T	ENSP00000385638.2:n.886+192C>T
ENST00000505878.3:c.721+192C>T	ENSP00000425952.1:n.721+192C>T
ENST00000510728.5:n.263C>T
ENST00000515462.5:n.238C>T
ENST00000603302.5:c.709+192C>T	ENSP00000474560.1:n.709+192C>T
ENST00000626637.1:c.721+192C>T	ENSP00000486771.1:n.721+192C>T
NM_001184705.2:c.709+192C>T	NP_001171634.2:n.709+192C>T
NM_005327.4:c.709+192C>T	NP_005318.3:n.709+192C>T
XM_005262972.1:c.721+192C>T	XP_005263029.1:n.721+192C>T
XR_938726.1:n.1050C>T
NM_001331027.1:c.721+192C>T	NP_001317956.1:n.721+192C>T
XR_001741214.2:n.817C>T
XR_002959727.1:n.995C>T
NM_001184705.3:c.709+192C>T	NP_001171634.2:n.709+192C>T
NM_005327.7:c.709+192C>T MANE Select	NP_005318.6:n.709+192C>T
NM_001184705.4:c.709+192C>T	NP_001171634.3:n.709+192C>T
NM_001331027.2:c.721+192C>T	NP_001317956.2:n.721+192C>T