Canonical Allele Identifier: CA1358291049
Gene: CTDSPL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.37954986T>C , CM000665.2:g.37954986T>C GRCh38
NC_000003.11:g.37996477T>C , CM000665.1:g.37996477T>C GRCh37
NC_000003.10:g.37971481T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000416688.6:c.234+7775T>C ENSP00000404977.2:n.234+7775T>C
ENST00000436654.2:c.235-2125T>C ENSP00000409600.2:n.235-2125T>C
ENST00000273179.10:c.235-2125T>C MANE Select ENSP00000273179.5:n.235-2125T>C
ENST00000273179.9:c.235-2125T>C ENSP00000273179.5:n.235-2125T>C
ENST00000310189.3:n.494-5T>C
ENST00000443503.6:c.234+7775T>C ENSP00000398288.2:n.234+7775T>C
ENST00000486978.5:n.247-2125T>C
NM_001008392.1:c.235-2125T>C NP_001008393.1:n.235-2125T>C
NM_005808.2:c.234+7775T>C NP_005799.2:n.234+7775T>C
XM_017005519.1:c.235-2125T>C XP_016861008.1:n.235-2125T>C
XM_017005520.1:c.190-2125T>C XP_016861009.1:n.190-2125T>C
NM_001008392.2:c.235-2125T>C MANE Select NP_001008393.1:n.235-2125T>C
NM_005808.3:c.234+7775T>C NP_005799.2:n.234+7775T>C