Canonical Allele Identifier: CA512113726
Gene: SOD1 HGNC NCBI

Linked Data

gnomAD v4: 21-31667261-T-C
MyVariant Identifiers: chr21:g.33039574T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.31667261T>C , CM000683.2:g.31667261T>C GRCh38
NC_000021.8:g.33039574T>C , CM000683.1:g.33039574T>C GRCh37
NC_000021.7:g.31961445T>C NCBI36
NG_008689.1:g.12640T>C , LRG_652:g.12640T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270142.11:c.243T>C MANE Select ENSP00000270142.7:p.His81=
ENST00000270142.10:c.243T>C ENSP00000270142.6:p.His81=
ENST00000389995.4:c.186T>C ENSP00000374645.4:p.His62=
ENST00000470944.1:n.1171T>C
ENST00000476106.5:n.506T>C
NM_000454.4:c.243T>C , LRG_652t1:c.243T>C NP_000445.1:p.His81=
NM_000454.5:c.243T>C MANE Select NP_000445.1:p.His81=
Search 100 bp 5'
Search 100 bp 3'