Canonical Allele Identifier: CA533656138
Gene: SPR HGNC NCBI

Linked Data

dbSNP Id: rs1361534807
gnomAD v2: 2-73118792-G-C
gnomAD v4: 2-72891663-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.72891663G>C , CM000664.2:g.72891663G>C GRCh38
NC_000002.11:g.73118792G>C , CM000664.1:g.73118792G>C GRCh37
NC_000002.10:g.72972300G>C NCBI36
NG_008234.1:g.9281G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000234454.6:c.*126G>C MANE Select ENSP00000234454.5:n.*126G>C
ENST00000234454.5:c.*126G>C ENSP00000234454.5:n.*126G>C
ENST00000498749.1:n.857G>C
NM_003124.4:c.*126G>C NP_003115.1:n.*126G>C
NM_003124.5:c.*126G>C MANE Select NP_003115.1:n.*126G>C