Canonical Allele Identifier: CA52252333
Gene: SUCLG1 HGNC NCBI

Linked Data

dbSNP Id: rs149226077
gnomAD v2: 2-84652847-T-G
gnomAD v3: 2-84425723-T-G
gnomAD v4: 2-84425723-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.84425723T>G , CM000664.2:g.84425723T>G GRCh38
NC_000002.11:g.84652847T>G , CM000664.1:g.84652847T>G GRCh37
NC_000002.10:g.84506358T>G NCBI36
NG_016755.1:g.38740A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000393868.7:c.826-120A>C MANE Select ENSP00000377446.2:n.826-120A>C
ENST00000651342.1:c.*266-120A>C ENSP00000498471.1:n.*266-120A>C
ENST00000393868.6:c.826-120A>C ENSP00000377446.2:n.826-120A>C
ENST00000484365.1:n.1214A>C
ENST00000487809.1:n.573-120A>C
ENST00000491123.5:n.672-120A>C
NM_003849.3:c.826-120A>C NP_003840.2:n.826-120A>C
NM_003849.4:c.826-120A>C MANE Select NP_003840.2:n.826-120A>C