Canonical Allele Identifier: CA347514618
Gene: SUCLG1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.84652610T>A (hg19) chr2:g.84425486T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.84425486T>A , CM000664.2:g.84425486T>A GRCh38
NC_000002.11:g.84652610T>A , CM000664.1:g.84652610T>A GRCh37
NC_000002.10:g.84506121T>A NCBI36
NG_016755.1:g.38977A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393868.7:c.943A>T MANE Select ENSP00000377446.2:p.Ile315Phe
ENST00000651342.1:c.*383A>T ENSP00000498471.1:n.*383A>T
ENST00000393868.6:c.943A>T ENSP00000377446.2:p.Ile315Phe
ENST00000484365.1:n.1451A>T
ENST00000487809.1:n.690A>T
ENST00000491123.5:n.789A>T
NM_003849.3:c.943A>T NP_003840.2:p.Ile315Phe
NM_003849.4:c.943A>T MANE Select NP_003840.2:p.Ile315Phe
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