Canonical Allele Identifier: CA357835983

Gene: HADH

Linked Data

• COSMIC: COSM5512049 ; COSM5512050
• MyVariant Identifiers: chr4:g.108948896C>T (hg19) ; chr4:g.108027740C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027740C>T , CM000666.2:g.108027740C>T	GRCh38
NC_000004.11:g.108948896C>T , CM000666.1:g.108948896C>T	GRCh37
NC_000004.10:g.109168345C>T	NCBI36
NG_008156.2:g.42957C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.4899C>T
ENST00000510728.6:n.1677C>T
ENST00000514776.3:n.122C>T
ENST00000515462.7:n.1876C>T
ENST00000626637.2:c.701C>T	ENSP00000486771.1:p.Ala234Val
ENST00000638648.2:c.701C>T	ENSP00000507949.1:p.Ala234Val
ENST00000640201.2:n.775C>T
ENST00000640752.2:n.4899C>T
ENST00000682067.1:c.522C>T
ENST00000682086.1:n.758C>T
ENST00000682373.1:c.348C>T
ENST00000684696.1:c.637-199C>T	ENSP00000507675.1:n.637-199C>T
ENST00000309522.8:c.689C>T MANE Select	ENSP00000312288.4:p.Ala230Val
ENST00000403312.6:c.689C>T	ENSP00000385638.3:p.Ala230Val
ENST00000505878.4:c.866C>T	ENSP00000425952.2:p.Ala289Val
ENST00000514776.2:n.122C>T
ENST00000515462.6:n.1876C>T
ENST00000638559.1:c.547C>T
ENST00000638621.1:c.275C>T	ENSP00000491581.1:p.Ala92Val
ENST00000638648.1:n.840C>T
ENST00000639146.1:c.689C>T	ENSP00000492345.1:p.Ala230Val
ENST00000639335.1:c.*124C>T	ENSP00000491310.1:n.*124C>T
ENST00000639698.1:c.516+4177C>T	ENSP00000492420.1:n.516+4177C>T
ENST00000639784.1:c.373+4177C>T
ENST00000640048.1:c.661C>T	ENSP00000492009.1:n.661C>T
ENST00000640060.1:c.*784C>T	ENSP00000492734.1:n.*784C>T
ENST00000640201.1:n.644C>T
ENST00000640752.1:n.4892C>T
ENST00000309522.7:c.689C>T	ENSP00000312288.3:p.Ala230Val
ENST00000403312.5:c.866C>T	ENSP00000385638.2:p.Ala289Val
ENST00000505878.3:c.701C>T	ENSP00000425952.1:p.Ala234Val
ENST00000507260.1:n.389C>T
ENST00000510728.5:n.229C>T
ENST00000515462.5:n.26C>T
ENST00000603302.5:c.689C>T	ENSP00000474560.1:p.Ala230Val
ENST00000626637.1:c.701C>T	ENSP00000486771.1:p.Ala234Val
NM_001184705.2:c.689C>T	NP_001171634.2:p.Ala230Val
NM_005327.4:c.689C>T	NP_005318.3:p.Ala230Val
XM_005262972.1:c.701C>T	XP_005263029.1:p.Ala234Val
XR_938726.1:n.838C>T
NM_001331027.1:c.701C>T	NP_001317956.1:p.Ala234Val
XR_001741214.2:n.783C>T
XR_002959727.1:n.783C>T
NM_001184705.3:c.689C>T	NP_001171634.2:p.Ala230Val
NM_005327.7:c.689C>T MANE Select	NP_005318.6:p.Ala230Val
NM_001184705.4:c.689C>T	NP_001171634.3:p.Ala230Val
NM_001331027.2:c.701C>T	NP_001317956.2:p.Ala234Val