Canonical Allele Identifier: CA9865188

Gene: SRSF6

Linked Data

• ClinVar Variation Id: 2454336
• ClinVar RCV Id: RCV004249909
• dbSNP Id: rs371201183
• ExAC: 20:42089237 C / T
• gnomAD v2: 20-42089237-C-T
• gnomAD v3: 20-43460597-C-T
• gnomAD v4: 20-43460597-C-T
• MyVariant Identifiers: chr20:g.42089237C>T (hg19) ; chr20:g.43460597C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.43460597C>T , CM000682.2:g.43460597C>T	GRCh38
NC_000020.10:g.42089237C>T , CM000682.1:g.42089237C>T	GRCh37
NC_000020.9:g.41522651C>T	NCBI36
NG_029906.1:g.7734C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244020.5:c.673C>T MANE Select	ENSP00000244020.3:p.Arg225Cys
ENST00000657241.1:c.653C>T
ENST00000662078.1:c.673C>T	ENSP00000499666.1:p.Arg225Trp
ENST00000668808.1:c.673C>T	ENSP00000499517.1:p.Arg225Cys
ENST00000670741.1:c.673C>T	ENSP00000499492.1:p.Arg225Cys
ENST00000671022.1:n.763C>T
ENST00000244020.4:c.673C>T	ENSP00000244020.3:p.Arg225Cys
ENST00000483871.6:c.*533C>T	ENSP00000433544.1:n.*533C>T
NM_006275.5:c.673C>T	NP_006266.2:p.Arg225Cys
NR_034009.1:n.1111C>T
XR_936608.1:n.1432C>T
XR_936608.2:n.1432C>T
NM_006275.6:c.673C>T MANE Select	NP_006266.2:p.Arg225Cys
NR_034009.2:n.1079C>T