Canonical Allele Identifier: CA347232412
Gene: SPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.72891373T>G , CM000664.2:g.72891373T>G GRCh38
NC_000002.11:g.73118502T>G , CM000664.1:g.73118502T>G GRCh37
NC_000002.10:g.72972010T>G NCBI36
NG_008234.1:g.8991T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000234454.6:c.622T>G MANE Select ENSP00000234454.5:p.Leu208Val
ENST00000234454.5:c.622T>G ENSP00000234454.5:p.Leu208Val
ENST00000498749.1:n.567T>G
NM_003124.4:c.622T>G NP_003115.1:p.Leu208Val
NM_003124.5:c.622T>G MANE Select NP_003115.1:p.Leu208Val