Canonical Allele Identifier: CA2561188736

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26194826G>C , CM000664.2:g.26194826G>C	GRCh38
NC_000002.11:g.26417695G>C , CM000664.1:g.26417695G>C	GRCh37
NC_000002.10:g.26271199G>C	NCBI36
NG_007121.1:g.54795C>G
NG_007121.2:g.54796C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1621-188C>G (HADHA) MANE Select	ENSP00000370023.3:n.1621-188C>G
ENST00000492433.2:c.1621-188C>G (HADHA)	ENSP00000438039.2:n.1621-188C>G
ENST00000643057.1:c.*1512-188C>G (HADHA)	ENSP00000493761.1:n.*1512-188C>G
ENST00000643063.1:c.*667-188C>G (HADHA)	ENSP00000495353.1:n.*667-188C>G
ENST00000643233.1:c.*1512-188C>G (HADHA)	ENSP00000493880.1:n.*1512-188C>G
ENST00000644428.1:c.*245-188C>G (HADHA)	ENSP00000495560.1:n.*245-188C>G
ENST00000645274.1:c.1516-188C>G (HADHA)	ENSP00000493996.1:n.1516-188C>G
ENST00000646031.1:c.980-188C>G (HADHA)
ENST00000646483.1:c.1487-188C>G (HADHA)	ENSP00000496185.1:n.1487-188C>G
ENST00000380649.7:c.1621-188C>G (HADHA)	ENSP00000370023.3:n.1621-188C>G
ENST00000492433.1:c.79-188C>G (HADHA)	ENSP00000438039.1:n.79-188C>G
NM_000182.4:c.1621-188C>G (HADHA)	NP_000173.2:n.1621-188C>G
XM_011532567.1:c.1684-7407G>C (GAREM2)	XP_011530869.1:n.1684-7407G>C
XM_011532567.3:c.1684-7407G>C (GAREM2)	XP_011530869.1:n.1684-7407G>C
NM_000182.5:c.1621-188C>G (HADHA) MANE Select	NP_000173.2:n.1621-188C>G