Canonical Allele Identifier: CA2671694148

Gene: HADH

Linked Data

• gnomAD v4: 4-108027813-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027813G>C , CM000666.2:g.108027813G>C	GRCh38
NC_000004.11:g.108948969G>C , CM000666.1:g.108948969G>C	GRCh37
NC_000004.10:g.109168418G>C	NCBI36
NG_008156.2:g.43030G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.4972G>C
ENST00000510728.6:n.1697+53G>C
ENST00000514776.3:n.195G>C
ENST00000515462.7:n.1949G>C
ENST00000626637.2:c.721+53G>C	ENSP00000486771.1:n.721+53G>C
ENST00000638648.2:c.721+53G>C	ENSP00000507949.1:n.721+53G>C
ENST00000640201.2:n.848G>C
ENST00000640752.2:n.4919+53G>C
ENST00000682067.1:c.542+53G>C
ENST00000682086.1:n.831G>C
ENST00000682373.1:c.368+53G>C
ENST00000684696.1:c.637-126G>C	ENSP00000507675.1:n.637-126G>C
ENST00000309522.8:c.709+53G>C MANE Select	ENSP00000312288.4:n.709+53G>C
ENST00000403312.6:c.709+53G>C	ENSP00000385638.3:n.709+53G>C
ENST00000505878.4:c.886+53G>C	ENSP00000425952.2:n.886+53G>C
ENST00000514776.2:n.195G>C
ENST00000515462.6:n.1949G>C
ENST00000638559.1:c.567+53G>C
ENST00000638621.1:c.295+53G>C	ENSP00000491581.1:n.295+53G>C
ENST00000638648.1:n.860+53G>C
ENST00000639146.1:c.709+53G>C	ENSP00000492345.1:n.709+53G>C
ENST00000639335.1:c.*144+53G>C	ENSP00000491310.1:n.*144+53G>C
ENST00000639698.1:c.516+4250G>C	ENSP00000492420.1:n.516+4250G>C
ENST00000639784.1:c.373+4250G>C
ENST00000640048.1:c.681+53G>C	ENSP00000492009.1:n.681+53G>C
ENST00000640060.1:c.*804+53G>C	ENSP00000492734.1:n.*804+53G>C
ENST00000640201.1:n.717G>C
ENST00000640752.1:n.4912+53G>C
ENST00000309522.7:c.709+53G>C	ENSP00000312288.3:n.709+53G>C
ENST00000403312.5:c.886+53G>C	ENSP00000385638.2:n.886+53G>C
ENST00000505878.3:c.721+53G>C	ENSP00000425952.1:n.721+53G>C
ENST00000507260.1:n.462G>C
ENST00000510728.5:n.249+53G>C
ENST00000515462.5:n.99G>C
ENST00000603302.5:c.709+53G>C	ENSP00000474560.1:n.709+53G>C
ENST00000626637.1:c.721+53G>C	ENSP00000486771.1:n.721+53G>C
NM_001184705.2:c.709+53G>C	NP_001171634.2:n.709+53G>C
NM_005327.4:c.709+53G>C	NP_005318.3:n.709+53G>C
XM_005262972.1:c.721+53G>C	XP_005263029.1:n.721+53G>C
XR_938726.1:n.911G>C
NM_001331027.1:c.721+53G>C	NP_001317956.1:n.721+53G>C
XR_001741214.2:n.803+53G>C
XR_002959727.1:n.856G>C
NM_001184705.3:c.709+53G>C	NP_001171634.2:n.709+53G>C
NM_005327.7:c.709+53G>C MANE Select	NP_005318.6:n.709+53G>C
NM_001184705.4:c.709+53G>C	NP_001171634.3:n.709+53G>C
NM_001331027.2:c.721+53G>C	NP_001317956.2:n.721+53G>C