Canonical Allele Identifier: CA510736986

Gene: SRSF6

Linked Data

• dbSNP Id: rs748702139
• gnomAD v2: 20-42089377-C-A
• MyVariant Identifiers: chr20:g.42089377C>A (hg19) ; chr20:g.43460737C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.43460737C>A , CM000682.2:g.43460737C>A	GRCh38
NC_000020.10:g.42089377C>A , CM000682.1:g.42089377C>A	GRCh37
NC_000020.9:g.41522791C>A	NCBI36
NG_029906.1:g.7874C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244020.5:c.709C>A MANE Select	ENSP00000244020.3:p.Arg237=
ENST00000657241.1:c.654+139C>A
ENST00000662078.1:c.674+139C>A	ENSP00000499666.1:n.674+139C>A
ENST00000668808.1:c.709C>A	ENSP00000499517.1:p.Arg237=
ENST00000670741.1:c.674+139C>A	ENSP00000499492.1:n.674+139C>A
ENST00000671022.1:n.799C>A
ENST00000244020.4:c.709C>A	ENSP00000244020.3:p.Arg237=
ENST00000483871.6:c.*569C>A	ENSP00000433544.1:n.*569C>A
NM_006275.5:c.709C>A	NP_006266.2:p.Arg237=
NR_034009.1:n.1147C>A
XR_936608.1:n.1468C>A
XR_936608.2:n.1468C>A
NM_006275.6:c.709C>A MANE Select	NP_006266.2:p.Arg237=
NR_034009.2:n.1115C>A