Canonical Allele Identifier: CA510737298

Gene: SRSF6

Linked Data

• MyVariant Identifiers: chr20:g.42089508C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.43460868C>A , CM000682.2:g.43460868C>A	GRCh38
NC_000020.10:g.42089508C>A , CM000682.1:g.42089508C>A	GRCh37
NC_000020.9:g.41522922C>A	NCBI36
NG_029906.1:g.8005C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244020.5:c.840C>A MANE Select	ENSP00000244020.3:p.Ser280=
ENST00000657241.1:c.654+270C>A
ENST00000662078.1:c.674+270C>A	ENSP00000499666.1:n.674+270C>A
ENST00000668808.1:c.824+16C>A	ENSP00000499517.1:n.824+16C>A
ENST00000670741.1:c.674+270C>A	ENSP00000499492.1:n.674+270C>A
ENST00000671022.1:n.930C>A
ENST00000244020.4:c.840C>A	ENSP00000244020.3:p.Ser280=
ENST00000483871.6:c.*700C>A	ENSP00000433544.1:n.*700C>A
NM_006275.5:c.840C>A	NP_006266.2:p.Ser280=
NR_034009.1:n.1278C>A
XR_936608.1:n.1599C>A
XR_936608.2:n.1599C>A
NM_006275.6:c.840C>A MANE Select	NP_006266.2:p.Ser280=
NR_034009.2:n.1246C>A