Canonical Allele Identifier: CA410037449
Gene: SOD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667294A>C , CM000683.2:g.31667294A>C GRCh38
NC_000021.8:g.33039607A>C , CM000683.1:g.33039607A>C GRCh37
NC_000021.7:g.31961478A>C NCBI36
NG_008689.1:g.12673A>C , LRG_652:g.12673A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.276A>C MANE Select ENSP00000270142.7:p.Lys92Asn
ENST00000270142.10:c.276A>C ENSP00000270142.6:p.Lys92Asn
ENST00000389995.4:c.219A>C ENSP00000374645.4:p.Lys73Asn
ENST00000470944.1:n.1204A>C
ENST00000476106.5:n.539A>C
NM_000454.4:c.276A>C , LRG_652t1:c.276A>C NP_000445.1:p.Lys92Asn
NM_000454.5:c.276A>C MANE Select NP_000445.1:p.Lys92Asn