Canonical Allele Identifier: CA102862094

Gene: HADH

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108034740G>C , CM000666.2:g.108034740G>C	GRCh38
NC_000004.11:g.108955896G>C , CM000666.1:g.108955896G>C	GRCh37
NC_000004.10:g.109175345G>C	NCBI36
NG_008156.2:g.49957G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005327.7:c.*383G>C MANE Select	NP_005318.6:n.*383G>C
ENST00000309522.8:c.*383G>C MANE Select	ENSP00000312288.4:n.*383G>C
NM_001184705.2:c.*383G>C	NP_001171634.2:n.*383G>C
NM_001184705.3:c.*383G>C	NP_001171634.2:n.*383G>C
NM_001184705.4:c.*383G>C	NP_001171634.3:n.*383G>C
NM_001331027.1:c.*383G>C	NP_001317956.1:n.*383G>C
NM_001331027.2:c.*383G>C	NP_001317956.2:n.*383G>C
NM_005327.4:c.*383G>C	NP_005318.3:n.*383G>C
ENST00000309522.7:c.*383G>C	ENSP00000312288.3:n.*383G>C
ENST00000403312.5:c.*383G>C	ENSP00000385638.2:n.*383G>C
ENST00000403312.6:c.*383G>C	ENSP00000385638.3:n.*383G>C
ENST00000505878.3:c.*383G>C	ENSP00000425952.1:n.*383G>C
ENST00000505878.4:c.*383G>C	ENSP00000425952.2:n.*383G>C
ENST00000507260.3:n.5847G>C
ENST00000510728.6:n.2447G>C
ENST00000514776.2:n.6176G>C
ENST00000514776.3:n.6176G>C
ENST00000515462.6:n.2824G>C
ENST00000515462.7:n.2824G>C
ENST00000603302.5:c.*383G>C	ENSP00000474560.1:n.*383G>C
ENST00000626637.1:c.1340G>C	ENSP00000486771.1:n.1340G>C
ENST00000626637.2:c.*383G>C	ENSP00000486771.1:n.*383G>C
ENST00000638559.1:c.1186G>C
ENST00000638648.1:n.1479G>C
ENST00000638648.2:c.*721G>C	ENSP00000507949.1:n.*721G>C
ENST00000639146.1:c.*721G>C	ENSP00000492345.1:n.*721G>C
ENST00000639335.1:c.*763G>C	ENSP00000491310.1:n.*763G>C
ENST00000639698.1:c.1135G>C	ENSP00000492420.1:n.1135G>C
ENST00000639784.1:c.992G>C
ENST00000640048.1:c.1300G>C	ENSP00000492009.1:n.1300G>C
ENST00000640060.1:c.*1423G>C	ENSP00000492734.1:n.*1423G>C
ENST00000640201.1:n.1592G>C
ENST00000640201.2:n.1723G>C
ENST00000640752.1:n.5531G>C
ENST00000640752.2:n.5538G>C
ENST00000682067.1:c.805G>C
ENST00000682086.1:n.1551G>C
ENST00000682373.1:c.987G>C
ENST00000684696.1:c.*648G>C	ENSP00000507675.1:n.*648G>C
XM_005262972.1:c.*383G>C	XP_005263029.1:n.*383G>C
XR_001741214.2:n.1553G>C
XR_002959727.1:n.1731G>C
XR_938726.1:n.1786G>C