Canonical Allele Identifier: CA357836004

Gene: HADH

Linked Data

• gnomAD v4: 4-108027748-C-A
• MyVariant Identifiers: chr4:g.108948904C>A (hg19) ; chr4:g.108027748C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027748C>A , CM000666.2:g.108027748C>A	GRCh38
NC_000004.11:g.108948904C>A , CM000666.1:g.108948904C>A	GRCh37
NC_000004.10:g.109168353C>A	NCBI36
NG_008156.2:g.42965C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.4907C>A
ENST00000510728.6:n.1685C>A
ENST00000514776.3:n.130C>A
ENST00000515462.7:n.1884C>A
ENST00000626637.2:c.709C>A	ENSP00000486771.1:p.Leu237Met
ENST00000638648.2:c.709C>A	ENSP00000507949.1:p.Leu237Met
ENST00000640201.2:n.783C>A
ENST00000640752.2:n.4907C>A
ENST00000682067.1:c.530C>A
ENST00000682086.1:n.766C>A
ENST00000682373.1:c.356C>A
ENST00000684696.1:c.637-191C>A	ENSP00000507675.1:n.637-191C>A
ENST00000309522.8:c.697C>A MANE Select	ENSP00000312288.4:p.Leu233Met
ENST00000403312.6:c.697C>A	ENSP00000385638.3:p.Leu233Met
ENST00000505878.4:c.874C>A	ENSP00000425952.2:p.Leu292Met
ENST00000514776.2:n.130C>A
ENST00000515462.6:n.1884C>A
ENST00000638559.1:c.555C>A
ENST00000638621.1:c.283C>A	ENSP00000491581.1:p.Leu95Met
ENST00000638648.1:n.848C>A
ENST00000639146.1:c.697C>A	ENSP00000492345.1:p.Leu233Met
ENST00000639335.1:c.*132C>A	ENSP00000491310.1:n.*132C>A
ENST00000639698.1:c.516+4185C>A	ENSP00000492420.1:n.516+4185C>A
ENST00000639784.1:c.373+4185C>A
ENST00000640048.1:c.669C>A	ENSP00000492009.1:n.669C>A
ENST00000640060.1:c.*792C>A	ENSP00000492734.1:n.*792C>A
ENST00000640201.1:n.652C>A
ENST00000640752.1:n.4900C>A
ENST00000309522.7:c.697C>A	ENSP00000312288.3:p.Leu233Met
ENST00000403312.5:c.874C>A	ENSP00000385638.2:p.Leu292Met
ENST00000505878.3:c.709C>A	ENSP00000425952.1:p.Leu237Met
ENST00000507260.1:n.397C>A
ENST00000510728.5:n.237C>A
ENST00000515462.5:n.34C>A
ENST00000603302.5:c.697C>A	ENSP00000474560.1:p.Leu233Met
ENST00000626637.1:c.709C>A	ENSP00000486771.1:p.Leu237Met
NM_001184705.2:c.697C>A	NP_001171634.2:p.Leu233Met
NM_005327.4:c.697C>A	NP_005318.3:p.Leu233Met
XM_005262972.1:c.709C>A	XP_005263029.1:p.Leu237Met
XR_938726.1:n.846C>A
NM_001331027.1:c.709C>A	NP_001317956.1:p.Leu237Met
XR_001741214.2:n.791C>A
XR_002959727.1:n.791C>A
NM_001184705.3:c.697C>A	NP_001171634.2:p.Leu233Met
NM_005327.7:c.697C>A MANE Select	NP_005318.6:p.Leu233Met
NM_001184705.4:c.697C>A	NP_001171634.3:p.Leu233Met
NM_001331027.2:c.709C>A	NP_001317956.2:p.Leu237Met