Canonical Allele Identifier: CA9865221

Gene: SRSF6

Linked Data

• dbSNP Id: rs556237742
• ExAC: 20:42089354 G / A
• gnomAD v2: 20-42089354-G-A
• gnomAD v3: 20-43460714-G-A
• gnomAD v4: 20-43460714-G-A
• MyVariant Identifiers: chr20:g.42089354G>A (hg19) ; chr20:g.43460714G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.43460714G>A , CM000682.2:g.43460714G>A	GRCh38
NC_000020.10:g.42089354G>A , CM000682.1:g.42089354G>A	GRCh37
NC_000020.9:g.41522768G>A	NCBI36
NG_029906.1:g.7851G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244020.5:c.686G>A MANE Select	ENSP00000244020.3:p.Arg229Gln
ENST00000657241.1:c.654+116G>A
ENST00000662078.1:c.674+116G>A	ENSP00000499666.1:n.674+116G>A
ENST00000668808.1:c.686G>A	ENSP00000499517.1:p.Arg229Gln
ENST00000670741.1:c.674+116G>A	ENSP00000499492.1:n.674+116G>A
ENST00000671022.1:n.776G>A
ENST00000244020.4:c.686G>A	ENSP00000244020.3:p.Arg229Gln
ENST00000483871.6:c.*546G>A	ENSP00000433544.1:n.*546G>A
NM_006275.5:c.686G>A	NP_006266.2:p.Arg229Gln
NR_034009.1:n.1124G>A
XR_936608.1:n.1445G>A
XR_936608.2:n.1445G>A
NM_006275.6:c.686G>A MANE Select	NP_006266.2:p.Arg229Gln
NR_034009.2:n.1092G>A