Canonical Allele Identifier: CA1709041
Gene: SPR HGNC NCBI

Linked Data

dbSNP Id: rs373766439
gnomAD v2: 2-73118702-C-T
gnomAD v3: 2-72891573-C-T
gnomAD v4: 2-72891573-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.72891573C>T , CM000664.2:g.72891573C>T GRCh38
NC_000002.11:g.73118702C>T , CM000664.1:g.73118702C>T GRCh37
NC_000002.10:g.72972210C>T NCBI36
NG_008234.1:g.9191C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000234454.6:c.*36C>T MANE Select ENSP00000234454.5:n.*36C>T
ENST00000234454.5:c.*36C>T ENSP00000234454.5:n.*36C>T
ENST00000498749.1:n.767C>T
NM_003124.4:c.*36C>T NP_003115.1:n.*36C>T
NM_003124.5:c.*36C>T MANE Select NP_003115.1:n.*36C>T