Canonical Allele Identifier: CA427118689
Gene: SUCLG1 HGNC NCBI

Linked Data

dbSNP Id: rs1281583789
gnomAD v2: 2-84652608-G-A
gnomAD v3: 2-84425484-G-A
gnomAD v4: 2-84425484-G-A
MyVariant Identifiers: chr2:g.84652608G>A (hg19) chr2:g.84425484G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.84425484G>A , CM000664.2:g.84425484G>A GRCh38
NC_000002.11:g.84652608G>A , CM000664.1:g.84652608G>A GRCh37
NC_000002.10:g.84506119G>A NCBI36
NG_016755.1:g.38979C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393868.7:c.945C>T MANE Select ENSP00000377446.2:p.Ile315=
ENST00000651342.1:c.*385C>T ENSP00000498471.1:n.*385C>T
ENST00000393868.6:c.945C>T ENSP00000377446.2:p.Ile315=
ENST00000484365.1:n.1453C>T
ENST00000487809.1:n.692C>T
ENST00000491123.5:n.791C>T
NM_003849.3:c.945C>T NP_003840.2:p.Ile315=
NM_003849.4:c.945C>T MANE Select NP_003840.2:p.Ile315=
Search 100 bp 5'
Search 100 bp 3'