Canonical Allele Identifier: CA410037401
Gene: SOD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.33039585T>C (hg19) chr21:g.31667272T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667272T>C , CM000683.2:g.31667272T>C GRCh38
NC_000021.8:g.33039585T>C , CM000683.1:g.33039585T>C GRCh37
NC_000021.7:g.31961456T>C NCBI36
NG_008689.1:g.12651T>C , LRG_652:g.12651T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.254T>C MANE Select ENSP00000270142.7:p.Leu85Ser
ENST00000270142.10:c.254T>C ENSP00000270142.6:p.Leu85Ser
ENST00000389995.4:c.197T>C ENSP00000374645.4:p.Leu66Ser
ENST00000470944.1:n.1182T>C
ENST00000476106.5:n.517T>C
NM_000454.4:c.254T>C , LRG_652t1:c.254T>C NP_000445.1:p.Leu85Ser
NM_000454.5:c.254T>C MANE Select NP_000445.1:p.Leu85Ser
Search 100 bp 5'
Search 100 bp 3'