Canonical Allele Identifier: CA2671694062

Gene: HADH

Linked Data

• ClinVar Variation Id: 3034297
• ClinVar RCV Id: RCV003904223
• dbSNP Id: rs2126237060
• gnomAD v4: 4-108027792-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027792A>G , CM000666.2:g.108027792A>G	GRCh38
NC_000004.11:g.108948948A>G , CM000666.1:g.108948948A>G	GRCh37
NC_000004.10:g.109168397A>G	NCBI36
NG_008156.2:g.43009A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.4951A>G
ENST00000510728.6:n.1697+32A>G
ENST00000514776.3:n.174A>G
ENST00000515462.7:n.1928A>G
ENST00000626637.2:c.721+32A>G	ENSP00000486771.1:n.721+32A>G
ENST00000638648.2:c.721+32A>G	ENSP00000507949.1:n.721+32A>G
ENST00000640201.2:n.827A>G
ENST00000640752.2:n.4919+32A>G
ENST00000682067.1:c.542+32A>G
ENST00000682086.1:n.810A>G
ENST00000682373.1:c.368+32A>G
ENST00000684696.1:c.637-147A>G	ENSP00000507675.1:n.637-147A>G
ENST00000309522.8:c.709+32A>G MANE Select	ENSP00000312288.4:n.709+32A>G
ENST00000403312.6:c.709+32A>G	ENSP00000385638.3:n.709+32A>G
ENST00000505878.4:c.886+32A>G	ENSP00000425952.2:n.886+32A>G
ENST00000514776.2:n.174A>G
ENST00000515462.6:n.1928A>G
ENST00000638559.1:c.567+32A>G
ENST00000638621.1:c.295+32A>G	ENSP00000491581.1:n.295+32A>G
ENST00000638648.1:n.860+32A>G
ENST00000639146.1:c.709+32A>G	ENSP00000492345.1:n.709+32A>G
ENST00000639335.1:c.*144+32A>G	ENSP00000491310.1:n.*144+32A>G
ENST00000639698.1:c.516+4229A>G	ENSP00000492420.1:n.516+4229A>G
ENST00000639784.1:c.373+4229A>G
ENST00000640048.1:c.681+32A>G	ENSP00000492009.1:n.681+32A>G
ENST00000640060.1:c.*804+32A>G	ENSP00000492734.1:n.*804+32A>G
ENST00000640201.1:n.696A>G
ENST00000640752.1:n.4912+32A>G
ENST00000309522.7:c.709+32A>G	ENSP00000312288.3:n.709+32A>G
ENST00000403312.5:c.886+32A>G	ENSP00000385638.2:n.886+32A>G
ENST00000505878.3:c.721+32A>G	ENSP00000425952.1:n.721+32A>G
ENST00000507260.1:n.441A>G
ENST00000510728.5:n.249+32A>G
ENST00000515462.5:n.78A>G
ENST00000603302.5:c.709+32A>G	ENSP00000474560.1:n.709+32A>G
ENST00000626637.1:c.721+32A>G	ENSP00000486771.1:n.721+32A>G
NM_001184705.2:c.709+32A>G	NP_001171634.2:n.709+32A>G
NM_005327.4:c.709+32A>G	NP_005318.3:n.709+32A>G
XM_005262972.1:c.721+32A>G	XP_005263029.1:n.721+32A>G
XR_938726.1:n.890A>G
NM_001331027.1:c.721+32A>G	NP_001317956.1:n.721+32A>G
XR_001741214.2:n.803+32A>G
XR_002959727.1:n.835A>G
NM_001184705.3:c.709+32A>G	NP_001171634.2:n.709+32A>G
NM_005327.7:c.709+32A>G MANE Select	NP_005318.6:n.709+32A>G
NM_001184705.4:c.709+32A>G	NP_001171634.3:n.709+32A>G
NM_001331027.2:c.721+32A>G	NP_001317956.2:n.721+32A>G