Canonical Allele Identifier: CA2659569845
Gene: SPR HGNC NCBI

Linked Data

gnomAD v4: 2-72891676-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.72891676G>A , CM000664.2:g.72891676G>A GRCh38
NC_000002.11:g.73118805G>A , CM000664.1:g.73118805G>A GRCh37
NC_000002.10:g.72972313G>A NCBI36
NG_008234.1:g.9294G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000234454.6:c.*139G>A MANE Select ENSP00000234454.5:n.*139G>A
ENST00000234454.5:c.*139G>A ENSP00000234454.5:n.*139G>A
ENST00000498749.1:n.870G>A
NM_003124.4:c.*139G>A NP_003115.1:n.*139G>A
NM_003124.5:c.*139G>A MANE Select NP_003115.1:n.*139G>A