Canonical Allele Identifier: CA6978016

Gene: SUCLA2

Linked Data

• dbSNP Id: rs754517318
• ExAC: 13:48562966 C / A
• gnomAD v2: 13-48562966-C-A
• gnomAD v4: 13-47988831-C-A
• MyVariant Identifiers: chr13:g.48562966C>A (hg19) ; chr13:g.47988831C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.47988831C>A , CM000675.2:g.47988831C>A	GRCh38
NC_000013.10:g.48562966C>A , CM000675.1:g.48562966C>A	GRCh37
NC_000013.9:g.47460967C>A	NCBI36
NG_008241.1:g.17497G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000642944.1:c.197+51G>T	ENSP00000495674.1:n.197+51G>T
ENST00000643023.1:c.371+51G>T	ENSP00000495664.1:n.371+51G>T
ENST00000643584.1:c.371+51G>T	ENSP00000494987.1:n.371+51G>T
ENST00000644338.1:c.371+51G>T	ENSP00000494723.1:n.371+51G>T
ENST00000646602.1:c.371+51G>T	ENSP00000495250.1:n.371+51G>T
ENST00000646804.1:c.197+51G>T	ENSP00000493977.1:n.197+51G>T
ENST00000646932.1:c.371+51G>T MANE Select	ENSP00000494360.1:n.371+51G>T
ENST00000647361.1:c.*164+51G>T	ENSP00000494607.1:n.*164+51G>T
ENST00000378654.8:c.371+51G>T	ENSP00000367923.3:n.371+51G>T
ENST00000433022.1:c.90+12349G>T	ENSP00000415091.1:n.90+12349G>T
ENST00000434484.5:c.161+51G>T	ENSP00000392771.1:n.161+51G>T
ENST00000470760.2:c.371+51G>T	ENSP00000488974.1:n.371+51G>T
ENST00000497202.6:c.465+51G>T	ENSP00000489175.1:n.465+51G>T
NM_003850.2:c.371+51G>T	NP_003841.1:n.371+51G>T
XM_011535292.1:c.134+51G>T	XP_011533594.1:n.134+51G>T
XM_011535293.1:c.-32+51G>T	XP_011533595.1:n.-32+51G>T
XR_941688.1:n.415+51G>T
NM_003850.3:c.371+51G>T MANE Select	NP_003841.1:n.371+51G>T