Canonical Allele Identifier: CA1358297174
Gene: CTDSPL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37969217T>A , CM000665.2:g.37969217T>A GRCh38
NC_000003.11:g.38010708T>A , CM000665.1:g.38010708T>A GRCh37
NC_000003.10:g.37985712T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000436654.2:c.426+1335T>A ENSP00000409600.2:n.426+1335T>A
ENST00000273179.10:c.426+1335T>A MANE Select ENSP00000273179.5:n.426+1335T>A
ENST00000273179.9:c.426+1335T>A ENSP00000273179.5:n.426+1335T>A
ENST00000310189.3:n.819+1335T>A
ENST00000443503.6:c.393+1335T>A ENSP00000398288.2:n.393+1335T>A
ENST00000447745.5:c.93+1335T>A ENSP00000407443.1:n.93+1335T>A
ENST00000486978.5:n.438+1335T>A
NM_001008392.1:c.426+1335T>A NP_001008393.1:n.426+1335T>A
NM_005808.2:c.393+1335T>A NP_005799.2:n.393+1335T>A
XM_017005519.1:c.426+1335T>A XP_016861008.1:n.426+1335T>A
XM_017005520.1:c.381+1335T>A XP_016861009.1:n.381+1335T>A
NM_001008392.2:c.426+1335T>A MANE Select NP_001008393.1:n.426+1335T>A
NM_005808.3:c.393+1335T>A NP_005799.2:n.393+1335T>A