Canonical Allele Identifier: CA409071311

Gene: SRSF6

Linked Data

• ClinVar Variation Id: 3170282
• ClinVar RCV Id: RCV004460712
• dbSNP Id: rs1387104043
• gnomAD v3: 20-43460725-C-G
• gnomAD v4: 20-43460725-C-G
• MyVariant Identifiers: chr20:g.42089365C>G (hg19) ; chr20:g.43460725C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.43460725C>G , CM000682.2:g.43460725C>G	GRCh38
NC_000020.10:g.42089365C>G , CM000682.1:g.42089365C>G	GRCh37
NC_000020.9:g.41522779C>G	NCBI36
NG_029906.1:g.7862C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244020.5:c.697C>G MANE Select	ENSP00000244020.3:p.Arg233Gly
ENST00000657241.1:c.654+127C>G
ENST00000662078.1:c.674+127C>G	ENSP00000499666.1:n.674+127C>G
ENST00000668808.1:c.697C>G	ENSP00000499517.1:p.Arg233Gly
ENST00000670741.1:c.674+127C>G	ENSP00000499492.1:n.674+127C>G
ENST00000671022.1:n.787C>G
ENST00000244020.4:c.697C>G	ENSP00000244020.3:p.Arg233Gly
ENST00000483871.6:c.*557C>G	ENSP00000433544.1:n.*557C>G
NM_006275.5:c.697C>G	NP_006266.2:p.Arg233Gly
NR_034009.1:n.1135C>G
XR_936608.1:n.1456C>G
XR_936608.2:n.1456C>G
NM_006275.6:c.697C>G MANE Select	NP_006266.2:p.Arg233Gly
NR_034009.2:n.1103C>G