Canonical Allele Identifier: CA357836009

Gene: HADH

Linked Data

• dbSNP Id: rs1253780004
• gnomAD v3: 4-108027751-T-C
• gnomAD v4: 4-108027751-T-C
• MyVariant Identifiers: chr4:g.108948907T>C (hg19) ; chr4:g.108027751T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027751T>C , CM000666.2:g.108027751T>C	GRCh38
NC_000004.11:g.108948907T>C , CM000666.1:g.108948907T>C	GRCh37
NC_000004.10:g.109168356T>C	NCBI36
NG_008156.2:g.42968T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.4910T>C
ENST00000510728.6:n.1688T>C
ENST00000514776.3:n.133T>C
ENST00000515462.7:n.1887T>C
ENST00000626637.2:c.712T>C	ENSP00000486771.1:p.Tyr238His
ENST00000638648.2:c.712T>C	ENSP00000507949.1:p.Tyr238His
ENST00000640201.2:n.786T>C
ENST00000640752.2:n.4910T>C
ENST00000682067.1:c.533T>C
ENST00000682086.1:n.769T>C
ENST00000682373.1:c.359T>C
ENST00000684696.1:c.637-188T>C	ENSP00000507675.1:n.637-188T>C
ENST00000309522.8:c.700T>C MANE Select	ENSP00000312288.4:p.Tyr234His
ENST00000403312.6:c.700T>C	ENSP00000385638.3:p.Tyr234His
ENST00000505878.4:c.877T>C	ENSP00000425952.2:p.Tyr293His
ENST00000514776.2:n.133T>C
ENST00000515462.6:n.1887T>C
ENST00000638559.1:c.558T>C
ENST00000638621.1:c.286T>C	ENSP00000491581.1:p.Tyr96His
ENST00000638648.1:n.851T>C
ENST00000639146.1:c.700T>C	ENSP00000492345.1:p.Tyr234His
ENST00000639335.1:c.*135T>C	ENSP00000491310.1:n.*135T>C
ENST00000639698.1:c.516+4188T>C	ENSP00000492420.1:n.516+4188T>C
ENST00000639784.1:c.373+4188T>C
ENST00000640048.1:c.672T>C	ENSP00000492009.1:n.672T>C
ENST00000640060.1:c.*795T>C	ENSP00000492734.1:n.*795T>C
ENST00000640201.1:n.655T>C
ENST00000640752.1:n.4903T>C
ENST00000309522.7:c.700T>C	ENSP00000312288.3:p.Tyr234His
ENST00000403312.5:c.877T>C	ENSP00000385638.2:p.Tyr293His
ENST00000505878.3:c.712T>C	ENSP00000425952.1:p.Tyr238His
ENST00000507260.1:n.400T>C
ENST00000510728.5:n.240T>C
ENST00000515462.5:n.37T>C
ENST00000603302.5:c.700T>C	ENSP00000474560.1:p.Tyr234His
ENST00000626637.1:c.712T>C	ENSP00000486771.1:p.Tyr238His
NM_001184705.2:c.700T>C	NP_001171634.2:p.Tyr234His
NM_005327.4:c.700T>C	NP_005318.3:p.Tyr234His
XM_005262972.1:c.712T>C	XP_005263029.1:p.Tyr238His
XR_938726.1:n.849T>C
NM_001331027.1:c.712T>C	NP_001317956.1:p.Tyr238His
XR_001741214.2:n.794T>C
XR_002959727.1:n.794T>C
NM_001184705.3:c.700T>C	NP_001171634.2:p.Tyr234His
NM_005327.7:c.700T>C MANE Select	NP_005318.6:p.Tyr234His
NM_001184705.4:c.700T>C	NP_001171634.3:p.Tyr234His
NM_001331027.2:c.712T>C	NP_001317956.2:p.Tyr238His