Canonical Allele Identifier: CA2740092718

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 2939611
• ClinVar RCV Id: RCV003794777

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26193789G>A , CM000664.2:g.26193789G>A	GRCh38
NC_000002.11:g.26416658G>A , CM000664.1:g.26416658G>A	GRCh37
NC_000002.10:g.26270162G>A	NCBI36
NG_007121.1:g.55832C>T
NG_007121.2:g.55833C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1690-17C>T (HADHA) MANE Select	ENSP00000370023.3:n.1690-17C>T
ENST00000492433.2:c.1690-17C>T (HADHA)	ENSP00000438039.2:n.1690-17C>T
ENST00000643057.1:c.*1581-17C>T (HADHA)	ENSP00000493761.1:n.*1581-17C>T
ENST00000643063.1:c.*736-17C>T (HADHA)	ENSP00000495353.1:n.*736-17C>T
ENST00000643233.1:c.*1581-17C>T (HADHA)	ENSP00000493880.1:n.*1581-17C>T
ENST00000644428.1:c.*314-17C>T (HADHA)	ENSP00000495560.1:n.*314-17C>T
ENST00000645274.1:c.1585-17C>T (HADHA)	ENSP00000493996.1:n.1585-17C>T
ENST00000646031.1:c.1049-17C>T (HADHA)
ENST00000646483.1:c.1556-17C>T (HADHA)	ENSP00000496185.1:n.1556-17C>T
ENST00000380649.7:c.1690-17C>T (HADHA)	ENSP00000370023.3:n.1690-17C>T
ENST00000492433.1:c.148-17C>T (HADHA)	ENSP00000438039.1:n.148-17C>T
NM_000182.4:c.1690-17C>T (HADHA)	NP_000173.2:n.1690-17C>T
XM_011532567.1:c.1683+6474G>A (GAREM2)	XP_011530869.1:n.1683+6474G>A
XM_011532567.3:c.1683+6474G>A (GAREM2)	XP_011530869.1:n.1683+6474G>A
NM_000182.5:c.1690-17C>T (HADHA) MANE Select	NP_000173.2:n.1690-17C>T