Canonical Allele Identifier: CA409071322
Gene: SRSF6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.43460728T>G , CM000682.2:g.43460728T>G GRCh38
NC_000020.10:g.42089368T>G , CM000682.1:g.42089368T>G GRCh37
NC_000020.9:g.41522782T>G NCBI36
NG_029906.1:g.7865T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000244020.5:c.700T>G MANE Select ENSP00000244020.3:p.Ser234Ala
ENST00000657241.1:c.654+130T>G
ENST00000662078.1:c.674+130T>G ENSP00000499666.1:n.674+130T>G
ENST00000668808.1:c.700T>G ENSP00000499517.1:p.Ser234Ala
ENST00000670741.1:c.674+130T>G ENSP00000499492.1:n.674+130T>G
ENST00000671022.1:n.790T>G
ENST00000244020.4:c.700T>G ENSP00000244020.3:p.Ser234Ala
ENST00000483871.6:c.*560T>G ENSP00000433544.1:n.*560T>G
NM_006275.5:c.700T>G NP_006266.2:p.Ser234Ala
NR_034009.1:n.1138T>G
XR_936608.1:n.1459T>G
XR_936608.2:n.1459T>G
NM_006275.6:c.700T>G MANE Select NP_006266.2:p.Ser234Ala
NR_034009.2:n.1106T>G