Canonical Allele Identifier: CA409071290

Gene: SRSF6

Linked Data

• gnomAD v4: 20-43460719-A-G
• MyVariant Identifiers: chr20:g.42089359A>G (hg19) ; chr20:g.43460719A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.43460719A>G , CM000682.2:g.43460719A>G	GRCh38
NC_000020.10:g.42089359A>G , CM000682.1:g.42089359A>G	GRCh37
NC_000020.9:g.41522773A>G	NCBI36
NG_029906.1:g.7856A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244020.5:c.691A>G MANE Select	ENSP00000244020.3:p.Lys231Glu
ENST00000657241.1:c.654+121A>G
ENST00000662078.1:c.674+121A>G	ENSP00000499666.1:n.674+121A>G
ENST00000668808.1:c.691A>G	ENSP00000499517.1:p.Lys231Glu
ENST00000670741.1:c.674+121A>G	ENSP00000499492.1:n.674+121A>G
ENST00000671022.1:n.781A>G
ENST00000244020.4:c.691A>G	ENSP00000244020.3:p.Lys231Glu
ENST00000483871.6:c.*551A>G	ENSP00000433544.1:n.*551A>G
NM_006275.5:c.691A>G	NP_006266.2:p.Lys231Glu
NR_034009.1:n.1129A>G
XR_936608.1:n.1450A>G
XR_936608.2:n.1450A>G
NM_006275.6:c.691A>G MANE Select	NP_006266.2:p.Lys231Glu
NR_034009.2:n.1097A>G