Canonical Allele Identifier: CA512113767
Gene: SOD1 HGNC NCBI

Linked Data

dbSNP Id: rs1220006790

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667327T>C , CM000683.2:g.31667327T>C GRCh38
NC_000021.8:g.33039640T>C , CM000683.1:g.33039640T>C GRCh37
NC_000021.7:g.31961511T>C NCBI36
NG_008689.1:g.12706T>C , LRG_652:g.12706T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.309T>C MANE Select ENSP00000270142.7:p.Ser103=
ENST00000270142.10:c.309T>C ENSP00000270142.6:p.Ser103=
ENST00000389995.4:c.252T>C ENSP00000374645.4:p.Ser84=
ENST00000470944.1:n.1237T>C
ENST00000476106.5:n.572T>C
NM_000454.4:c.309T>C , LRG_652t1:c.309T>C NP_000445.1:p.Ser103=
NM_000454.5:c.309T>C MANE Select NP_000445.1:p.Ser103=