Canonical Allele Identifier: CA440568420

Gene: HADH

Linked Data

• gnomAD v4: 4-108027696-T-G
• MyVariant Identifiers: chr4:g.108948852T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027696T>G , CM000666.2:g.108027696T>G	GRCh38
NC_000004.11:g.108948852T>G , CM000666.1:g.108948852T>G	GRCh37
NC_000004.10:g.109168301T>G	NCBI36
NG_008156.2:g.42913T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.4855T>G
ENST00000510728.6:n.1633T>G
ENST00000514776.3:n.78T>G
ENST00000515462.7:n.1832T>G
ENST00000626637.2:c.657T>G	ENSP00000486771.1:p.Pro219=
ENST00000638648.2:c.657T>G	ENSP00000507949.1:p.Pro219=
ENST00000640201.2:n.731T>G
ENST00000640752.2:n.4855T>G
ENST00000682067.1:c.478T>G
ENST00000682086.1:n.714T>G
ENST00000682373.1:c.304T>G
ENST00000684696.1:c.637-243T>G	ENSP00000507675.1:n.637-243T>G
ENST00000309522.8:c.645T>G MANE Select	ENSP00000312288.4:p.Pro215=
ENST00000403312.6:c.645T>G	ENSP00000385638.3:p.Pro215=
ENST00000505878.4:c.822T>G	ENSP00000425952.2:p.Pro274=
ENST00000514776.2:n.78T>G
ENST00000515462.6:n.1832T>G
ENST00000638559.1:c.503T>G
ENST00000638621.1:c.231T>G	ENSP00000491581.1:p.Pro77=
ENST00000638648.1:n.796T>G
ENST00000639146.1:c.645T>G	ENSP00000492345.1:p.Pro215=
ENST00000639335.1:c.*80T>G	ENSP00000491310.1:n.*80T>G
ENST00000639698.1:c.516+4133T>G	ENSP00000492420.1:n.516+4133T>G
ENST00000639784.1:c.373+4133T>G
ENST00000640048.1:c.617T>G	ENSP00000492009.1:n.617T>G
ENST00000640060.1:c.*740T>G	ENSP00000492734.1:n.*740T>G
ENST00000640201.1:n.600T>G
ENST00000640752.1:n.4848T>G
ENST00000309522.7:c.645T>G	ENSP00000312288.3:p.Pro215=
ENST00000403312.5:c.822T>G	ENSP00000385638.2:p.Pro274=
ENST00000505878.3:c.657T>G	ENSP00000425952.1:p.Pro219=
ENST00000507260.1:n.345T>G
ENST00000510728.5:n.185T>G
ENST00000603302.5:c.645T>G	ENSP00000474560.1:p.Pro215=
ENST00000626637.1:c.657T>G	ENSP00000486771.1:p.Pro219=
NM_001184705.2:c.645T>G	NP_001171634.2:p.Pro215=
NM_005327.4:c.645T>G	NP_005318.3:p.Pro215=
XM_005262972.1:c.657T>G	XP_005263029.1:p.Pro219=
XR_938726.1:n.794T>G
NM_001331027.1:c.657T>G	NP_001317956.1:p.Pro219=
XR_001741214.2:n.739T>G
XR_002959727.1:n.739T>G
NM_001184705.3:c.645T>G	NP_001171634.2:p.Pro215=
NM_005327.7:c.645T>G MANE Select	NP_005318.6:p.Pro215=
NM_001184705.4:c.645T>G	NP_001171634.3:p.Pro215=
NM_001331027.2:c.657T>G	NP_001317956.2:p.Pro219=