Canonical Allele Identifier: CA1709038
Gene: SPR HGNC NCBI

Linked Data

dbSNP Id: rs780054308
gnomAD v2: 2-73118674-T-A
gnomAD v4: 2-72891545-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.72891545T>A , CM000664.2:g.72891545T>A GRCh38
NC_000002.11:g.73118674T>A , CM000664.1:g.73118674T>A GRCh37
NC_000002.10:g.72972182T>A NCBI36
NG_008234.1:g.9163T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000234454.6:c.*8T>A MANE Select ENSP00000234454.5:n.*8T>A
ENST00000234454.5:c.*8T>A ENSP00000234454.5:n.*8T>A
ENST00000498749.1:n.739T>A
NM_003124.4:c.*8T>A NP_003115.1:n.*8T>A
NM_003124.5:c.*8T>A MANE Select NP_003115.1:n.*8T>A