Canonical Allele Identifier: CA1066482547

Gene: HADH

Linked Data

• dbSNP Id: rs1736122331
• gnomAD v3: 4-108027998-C-CTACA
• gnomAD v4: 4-108027998-C-CTACA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027999_108028002dup , CM000666.2:g.108027999_108028002dup	GRCh38
NC_000004.11:g.108949155_108949158dup , CM000666.1:g.108949155_108949158dup	GRCh37
NC_000004.10:g.109168604_109168607dup	NCBI36
NG_008156.2:g.43216_43219dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.5158_5161dup
ENST00000510728.6:n.1758_1761dup
ENST00000514776.3:n.381_384dup
ENST00000515462.7:n.2135_2138dup
ENST00000626637.2:c.721+239_721+242dup	ENSP00000486771.1:n.721+239_721+242dup
ENST00000638648.2:c.*32_*35dup	ENSP00000507949.1:n.*32_*35dup
ENST00000640201.2:n.1034_1037dup
ENST00000640752.2:n.4919+239_4919+242dup
ENST00000682067.1:c.542+239_542+242dup
ENST00000682086.1:n.1017_1020dup
ENST00000682373.1:c.368+239_368+242dup
ENST00000684696.1:c.697_700dup	ENSP00000507675.1:p.Ser234IlefsTer23
ENST00000309522.8:c.709+239_709+242dup MANE Select	ENSP00000312288.4:n.709+239_709+242dup
ENST00000403312.6:c.709+239_709+242dup	ENSP00000385638.3:n.709+239_709+242dup
ENST00000505878.4:c.886+239_886+242dup	ENSP00000425952.2:n.886+239_886+242dup
ENST00000514776.2:n.381_384dup
ENST00000515462.6:n.2135_2138dup
ENST00000638559.1:c.567+239_567+242dup
ENST00000638621.1:c.295+239_295+242dup	ENSP00000491581.1:n.295+239_295+242dup
ENST00000638648.1:n.860+239_860+242dup
ENST00000639146.1:c.*32_*35dup	ENSP00000492345.1:n.*32_*35dup
ENST00000639335.1:c.*144+239_*144+242dup	ENSP00000491310.1:n.*144+239_*144+242dup
ENST00000639698.1:c.516+4436_516+4439dup	ENSP00000492420.1:n.516+4436_516+4439dup
ENST00000639784.1:c.373+4436_373+4439dup
ENST00000640048.1:c.681+239_681+242dup	ENSP00000492009.1:n.681+239_681+242dup
ENST00000640060.1:c.*804+239_*804+242dup	ENSP00000492734.1:n.*804+239_*804+242dup
ENST00000640201.1:n.903_906dup
ENST00000640752.1:n.4912+239_4912+242dup
ENST00000309522.7:c.709+239_709+242dup	ENSP00000312288.3:n.709+239_709+242dup
ENST00000403312.5:c.886+239_886+242dup	ENSP00000385638.2:n.886+239_886+242dup
ENST00000505878.3:c.721+239_721+242dup	ENSP00000425952.1:n.721+239_721+242dup
ENST00000510728.5:n.310_313dup
ENST00000515462.5:n.285_288dup
ENST00000603302.5:c.709+239_709+242dup	ENSP00000474560.1:n.709+239_709+242dup
ENST00000626637.1:c.721+239_721+242dup	ENSP00000486771.1:n.721+239_721+242dup
NM_001184705.2:c.709+239_709+242dup	NP_001171634.2:n.709+239_709+242dup
NM_005327.4:c.709+239_709+242dup	NP_005318.3:n.709+239_709+242dup
XM_005262972.1:c.721+239_721+242dup	XP_005263029.1:n.721+239_721+242dup
XR_938726.1:n.1097_1100dup
NM_001331027.1:c.721+239_721+242dup	NP_001317956.1:n.721+239_721+242dup
XR_001741214.2:n.864_867dup
XR_002959727.1:n.1042_1045dup
NM_001184705.3:c.709+239_709+242dup	NP_001171634.2:n.709+239_709+242dup
NM_005327.7:c.709+239_709+242dup MANE Select	NP_005318.6:n.709+239_709+242dup
NM_001184705.4:c.709+239_709+242dup	NP_001171634.3:n.709+239_709+242dup
NM_001331027.2:c.721+239_721+242dup	NP_001317956.2:n.721+239_721+242dup