Canonical Allele Identifier: CA410036116
Gene: SOD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31659841G>C , CM000683.2:g.31659841G>C GRCh38
NC_000021.8:g.33032154G>C , CM000683.1:g.33032154G>C GRCh37
NC_000021.7:g.31954025G>C NCBI36
NG_008689.1:g.5220G>C , LRG_652:g.5220G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000270142.11:c.72G>C MANE Select ENSP00000270142.7:p.Lys24Asn
ENST00000270142.10:c.72G>C ENSP00000270142.6:p.Lys24Asn
ENST00000389995.4:c.15+57G>C ENSP00000374645.4:n.15+57G>C
ENST00000470944.1:n.133G>C
ENST00000476106.5:n.149G>C
NM_000454.4:c.72G>C , LRG_652t1:c.72G>C NP_000445.1:p.Lys24Asn
NM_000454.5:c.72G>C MANE Select NP_000445.1:p.Lys24Asn