Canonical Allele Identifier: CA510737042
Gene: SRSF6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.42089415T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.43460775T>G , CM000682.2:g.43460775T>G GRCh38
NC_000020.10:g.42089415T>G , CM000682.1:g.42089415T>G GRCh37
NC_000020.9:g.41522829T>G NCBI36
NG_029906.1:g.7912T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000244020.5:c.747T>G MANE Select ENSP00000244020.3:p.Ser249=
ENST00000657241.1:c.654+177T>G
ENST00000662078.1:c.674+177T>G ENSP00000499666.1:n.674+177T>G
ENST00000668808.1:c.747T>G ENSP00000499517.1:p.Ser249=
ENST00000670741.1:c.674+177T>G ENSP00000499492.1:n.674+177T>G
ENST00000671022.1:n.837T>G
ENST00000244020.4:c.747T>G ENSP00000244020.3:p.Ser249=
ENST00000483871.6:c.*607T>G ENSP00000433544.1:n.*607T>G
NM_006275.5:c.747T>G NP_006266.2:p.Ser249=
NR_034009.1:n.1185T>G
XR_936608.1:n.1506T>G
XR_936608.2:n.1506T>G
NM_006275.6:c.747T>G MANE Select NP_006266.2:p.Ser249=
NR_034009.2:n.1153T>G