Canonical Allele Identifier: CA347232593
Gene: SPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.72891429G>C , CM000664.2:g.72891429G>C GRCh38
NC_000002.11:g.73118558G>C , CM000664.1:g.73118558G>C GRCh37
NC_000002.10:g.72972066G>C NCBI36
NG_008234.1:g.9047G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000234454.6:c.678G>C MANE Select ENSP00000234454.5:p.Lys226Asn
ENST00000234454.5:c.678G>C ENSP00000234454.5:p.Lys226Asn
ENST00000498749.1:n.623G>C
NM_003124.4:c.678G>C NP_003115.1:p.Lys226Asn
NM_003124.5:c.678G>C MANE Select NP_003115.1:p.Lys226Asn