Canonical Allele Identifier: CA10615949
Gene: SPR HGNC NCBI

Linked Data

ClinVar Variation Id: 336993
ClinVar RCV Id: RCV000315126
dbSNP Id: rs372751802
gnomAD v2: 2-73118774-G-A
gnomAD v3: 2-72891645-G-A
gnomAD v4: 2-72891645-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.72891645G>A , CM000664.2:g.72891645G>A GRCh38
NC_000002.11:g.73118774G>A , CM000664.1:g.73118774G>A GRCh37
NC_000002.10:g.72972282G>A NCBI36
NG_008234.1:g.9263G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000234454.6:c.*108G>A MANE Select ENSP00000234454.5:n.*108G>A
ENST00000234454.5:c.*108G>A ENSP00000234454.5:n.*108G>A
ENST00000498749.1:n.839G>A
NM_003124.4:c.*108G>A NP_003115.1:n.*108G>A
NM_003124.5:c.*108G>A MANE Select NP_003115.1:n.*108G>A