Canonical Allele Identifier: CA357836040

Gene: HADH

Linked Data

• gnomAD v4: 4-108027760-G-C
• MyVariant Identifiers: chr4:g.108948916G>C (hg19) ; chr4:g.108027760G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027760G>C , CM000666.2:g.108027760G>C	GRCh38
NC_000004.11:g.108948916G>C , CM000666.1:g.108948916G>C	GRCh37
NC_000004.10:g.109168365G>C	NCBI36
NG_008156.2:g.42977G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.4919G>C
ENST00000510728.6:n.1697G>C
ENST00000514776.3:n.142G>C
ENST00000515462.7:n.1896G>C
ENST00000626637.2:c.721G>C	ENSP00000486771.1:p.Gly241Arg
ENST00000638648.2:c.721G>C	ENSP00000507949.1:p.Gly241Arg
ENST00000640201.2:n.795G>C
ENST00000640752.2:n.4919G>C
ENST00000682067.1:c.542G>C
ENST00000682086.1:n.778G>C
ENST00000682373.1:c.368G>C
ENST00000684696.1:c.637-179G>C	ENSP00000507675.1:n.637-179G>C
ENST00000309522.8:c.709G>C MANE Select	ENSP00000312288.4:p.Gly237Arg
ENST00000403312.6:c.709G>C	ENSP00000385638.3:p.Val237Leu
ENST00000505878.4:c.886G>C	ENSP00000425952.2:p.Asp296His
ENST00000514776.2:n.142G>C
ENST00000515462.6:n.1896G>C
ENST00000638559.1:c.567G>C
ENST00000638621.1:c.295G>C	ENSP00000491581.1:p.Gly99Arg
ENST00000638648.1:n.860G>C
ENST00000639146.1:c.709G>C	ENSP00000492345.1:p.Gly237Arg
ENST00000639335.1:c.*144G>C	ENSP00000491310.1:n.*144G>C
ENST00000639698.1:c.516+4197G>C	ENSP00000492420.1:n.516+4197G>C
ENST00000639784.1:c.373+4197G>C
ENST00000640048.1:c.681G>C	ENSP00000492009.1:n.681G>C
ENST00000640060.1:c.*804G>C	ENSP00000492734.1:n.*804G>C
ENST00000640201.1:n.664G>C
ENST00000640752.1:n.4912G>C
ENST00000309522.7:c.709G>C	ENSP00000312288.3:p.Gly237Arg
ENST00000403312.5:c.886G>C	ENSP00000385638.2:p.Asp296His
ENST00000505878.3:c.721G>C	ENSP00000425952.1:p.Gly241Arg
ENST00000507260.1:n.409G>C
ENST00000510728.5:n.249G>C
ENST00000515462.5:n.46G>C
ENST00000603302.5:c.709G>C	ENSP00000474560.1:p.Asp237His
ENST00000626637.1:c.721G>C	ENSP00000486771.1:p.Gly241Arg
NM_001184705.2:c.709G>C	NP_001171634.2:p.Asp237His
NM_005327.4:c.709G>C	NP_005318.3:p.Gly237Arg
XM_005262972.1:c.721G>C	XP_005263029.1:p.Gly241Arg
XR_938726.1:n.858G>C
NM_001331027.1:c.721G>C	NP_001317956.1:p.Gly241Arg
XR_001741214.2:n.803G>C
XR_002959727.1:n.803G>C
NM_001184705.3:c.709G>C	NP_001171634.2:p.Asp237His
NM_005327.7:c.709G>C MANE Select	NP_005318.6:p.Gly237Arg
NM_001184705.4:c.709G>C	NP_001171634.3:p.Asp237His
NM_001331027.2:c.721G>C	NP_001317956.2:p.Gly241Arg