Canonical Allele Identifier: CA2740092772

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 2949178
• ClinVar RCV Id: RCV003801904

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26201131C>A , CM000664.2:g.26201131C>A	GRCh38
NC_000002.11:g.26424000C>A , CM000664.1:g.26424000C>A	GRCh37
NC_000002.10:g.26277504C>A	NCBI36
NG_007121.1:g.48490G>T
NG_007121.2:g.48491G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1392+18G>T (HADHA) MANE Select	ENSP00000370023.3:n.1392+18G>T
ENST00000492433.2:c.1392+18G>T (HADHA)	ENSP00000438039.2:n.1392+18G>T
ENST00000643057.1:c.*1283+18G>T (HADHA)	ENSP00000493761.1:n.*1283+18G>T
ENST00000643063.1:c.*438+18G>T (HADHA)	ENSP00000495353.1:n.*438+18G>T
ENST00000643233.1:c.*1283+18G>T (HADHA)	ENSP00000493880.1:n.*1283+18G>T
ENST00000644428.1:c.1392+18G>T (HADHA)	ENSP00000495560.1:n.1392+18G>T
ENST00000645274.1:c.1287+18G>T (HADHA)	ENSP00000493996.1:n.1287+18G>T
ENST00000646031.1:c.751+18G>T (HADHA)
ENST00000646483.1:c.1258+18G>T (HADHA)	ENSP00000496185.1:n.1258+18G>T
ENST00000380649.7:c.1392+18G>T (HADHA)	ENSP00000370023.3:n.1392+18G>T
NM_000182.4:c.1392+18G>T (HADHA)	NP_000173.2:n.1392+18G>T
XM_011532567.1:c.1684-1102C>A (GAREM2)	XP_011530869.1:n.1684-1102C>A
XM_011532567.3:c.1684-1102C>A (GAREM2)	XP_011530869.1:n.1684-1102C>A
NM_000182.5:c.1392+18G>T (HADHA) MANE Select	NP_000173.2:n.1392+18G>T