Canonical Allele Identifier: CA10617676

Gene: HADH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108034957C>T , CM000666.2:g.108034957C>T	GRCh38
NC_000004.11:g.108956113C>T , CM000666.1:g.108956113C>T	GRCh37
NC_000004.10:g.109175562C>T	NCBI36
NG_008156.2:g.50174C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005327.7:c.*600C>T MANE Select	NP_005318.6:n.*600C>T
ENST00000309522.8:c.*600C>T MANE Select	ENSP00000312288.4:n.*600C>T
NM_001184705.2:c.*600C>T	NP_001171634.2:n.*600C>T
NM_001184705.3:c.*600C>T	NP_001171634.2:n.*600C>T
NM_001184705.4:c.*600C>T	NP_001171634.3:n.*600C>T
NM_001331027.1:c.*600C>T	NP_001317956.1:n.*600C>T
NM_001331027.2:c.*600C>T	NP_001317956.2:n.*600C>T
NM_005327.4:c.*600C>T	NP_005318.3:n.*600C>T
ENST00000309522.7:c.*600C>T	ENSP00000312288.3:n.*600C>T
ENST00000403312.5:c.*600C>T	ENSP00000385638.2:n.*600C>T
ENST00000403312.6:c.*600C>T	ENSP00000385638.3:n.*600C>T
ENST00000505878.3:c.*600C>T	ENSP00000425952.1:n.*600C>T
ENST00000507260.3:n.6064C>T
ENST00000510728.6:n.2664C>T
ENST00000514776.2:n.6393C>T
ENST00000514776.3:n.6393C>T
ENST00000515462.6:n.3041C>T
ENST00000515462.7:n.3041C>T
ENST00000603302.5:c.*600C>T	ENSP00000474560.1:n.*600C>T
ENST00000626637.1:c.1557C>T	ENSP00000486771.1:n.1557C>T
ENST00000638648.1:n.1696C>T
ENST00000639146.1:c.*938C>T	ENSP00000492345.1:n.*938C>T
ENST00000639698.1:c.1352C>T	ENSP00000492420.1:n.1352C>T
ENST00000639784.1:c.1209C>T
ENST00000640048.1:c.1517C>T	ENSP00000492009.1:n.1517C>T
ENST00000640060.1:c.*1640C>T	ENSP00000492734.1:n.*1640C>T
ENST00000640201.1:n.1809C>T
ENST00000640201.2:n.1940C>T
ENST00000640752.1:n.5748C>T
ENST00000640752.2:n.5755C>T
ENST00000682373.1:c.1204C>T
XM_005262972.1:c.*600C>T	XP_005263029.1:n.*600C>T
XR_001741214.2:n.1770C>T
XR_002959727.1:n.1948C>T
XR_938726.1:n.2003C>T