Canonical Allele Identifier: CA357835752

Gene: HADH

Linked Data

• gnomAD v4: 4-108027695-C-T
• COSMIC: COSM5918436 ; COSM5918437
• MyVariant Identifiers: chr4:g.108948851C>T (hg19) ; chr4:g.108027695C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027695C>T , CM000666.2:g.108027695C>T	GRCh38
NC_000004.11:g.108948851C>T , CM000666.1:g.108948851C>T	GRCh37
NC_000004.10:g.109168300C>T	NCBI36
NG_008156.2:g.42912C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.4854C>T
ENST00000510728.6:n.1632C>T
ENST00000514776.3:n.77C>T
ENST00000515462.7:n.1831C>T
ENST00000626637.2:c.656C>T	ENSP00000486771.1:p.Pro219Leu
ENST00000638648.2:c.656C>T	ENSP00000507949.1:p.Pro219Leu
ENST00000640201.2:n.730C>T
ENST00000640752.2:n.4854C>T
ENST00000682067.1:c.477C>T
ENST00000682086.1:n.713C>T
ENST00000682373.1:c.303C>T
ENST00000684696.1:c.637-244C>T	ENSP00000507675.1:n.637-244C>T
ENST00000309522.8:c.644C>T MANE Select	ENSP00000312288.4:p.Pro215Leu
ENST00000403312.6:c.644C>T	ENSP00000385638.3:p.Pro215Leu
ENST00000505878.4:c.821C>T	ENSP00000425952.2:p.Pro274Leu
ENST00000514776.2:n.77C>T
ENST00000515462.6:n.1831C>T
ENST00000638559.1:c.502C>T
ENST00000638621.1:c.230C>T	ENSP00000491581.1:p.Pro77Leu
ENST00000638648.1:n.795C>T
ENST00000639146.1:c.644C>T	ENSP00000492345.1:p.Pro215Leu
ENST00000639335.1:c.*79C>T	ENSP00000491310.1:n.*79C>T
ENST00000639698.1:c.516+4132C>T	ENSP00000492420.1:n.516+4132C>T
ENST00000639784.1:c.373+4132C>T
ENST00000640048.1:c.616C>T	ENSP00000492009.1:n.616C>T
ENST00000640060.1:c.*739C>T	ENSP00000492734.1:n.*739C>T
ENST00000640201.1:n.599C>T
ENST00000640752.1:n.4847C>T
ENST00000309522.7:c.644C>T	ENSP00000312288.3:p.Pro215Leu
ENST00000403312.5:c.821C>T	ENSP00000385638.2:p.Pro274Leu
ENST00000505878.3:c.656C>T	ENSP00000425952.1:p.Pro219Leu
ENST00000507260.1:n.344C>T
ENST00000510728.5:n.184C>T
ENST00000603302.5:c.644C>T	ENSP00000474560.1:p.Pro215Leu
ENST00000626637.1:c.656C>T	ENSP00000486771.1:p.Pro219Leu
NM_001184705.2:c.644C>T	NP_001171634.2:p.Pro215Leu
NM_005327.4:c.644C>T	NP_005318.3:p.Pro215Leu
XM_005262972.1:c.656C>T	XP_005263029.1:p.Pro219Leu
XR_938726.1:n.793C>T
NM_001331027.1:c.656C>T	NP_001317956.1:p.Pro219Leu
XR_001741214.2:n.738C>T
XR_002959727.1:n.738C>T
NM_001184705.3:c.644C>T	NP_001171634.2:p.Pro215Leu
NM_005327.7:c.644C>T MANE Select	NP_005318.6:p.Pro215Leu
NM_001184705.4:c.644C>T	NP_001171634.3:p.Pro215Leu
NM_001331027.2:c.656C>T	NP_001317956.2:p.Pro219Leu