Canonical Allele Identifier: CA1709043
Gene: SPR HGNC NCBI

Linked Data

dbSNP Id: rs771879757
gnomAD v2: 2-73118713-A-G
gnomAD v4: 2-72891584-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.72891584A>G , CM000664.2:g.72891584A>G GRCh38
NC_000002.11:g.73118713A>G , CM000664.1:g.73118713A>G GRCh37
NC_000002.10:g.72972221A>G NCBI36
NG_008234.1:g.9202A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000234454.6:c.*47A>G MANE Select ENSP00000234454.5:n.*47A>G
ENST00000234454.5:c.*47A>G ENSP00000234454.5:n.*47A>G
ENST00000498749.1:n.778A>G
NM_003124.4:c.*47A>G NP_003115.1:n.*47A>G
NM_003124.5:c.*47A>G MANE Select NP_003115.1:n.*47A>G