Canonical Allele Identifier: CA314557394

Gene: SRSF6

Linked Data

• dbSNP Id: rs866504121
• gnomAD v2: 20-42089231-C-T
• gnomAD v4: 20-43460591-C-T
• MyVariant Identifiers: chr20:g.42089231C>T (hg19) ; chr20:g.43460591C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.43460591C>T , CM000682.2:g.43460591C>T	GRCh38
NC_000020.10:g.42089231C>T , CM000682.1:g.42089231C>T	GRCh37
NC_000020.9:g.41522645C>T	NCBI36
NG_029906.1:g.7728C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244020.5:c.667C>T MANE Select	ENSP00000244020.3:p.Arg223Cys
ENST00000657241.1:c.647C>T
ENST00000662078.1:c.667C>T	ENSP00000499666.1:p.Arg223Cys
ENST00000668808.1:c.667C>T	ENSP00000499517.1:p.Arg223Cys
ENST00000670741.1:c.667C>T	ENSP00000499492.1:p.Arg223Cys
ENST00000671022.1:n.757C>T
ENST00000244020.4:c.667C>T	ENSP00000244020.3:p.Arg223Cys
ENST00000483871.6:c.*527C>T	ENSP00000433544.1:n.*527C>T
NM_006275.5:c.667C>T	NP_006266.2:p.Arg223Cys
NR_034009.1:n.1105C>T
XR_936608.1:n.1426C>T
XR_936608.2:n.1426C>T
NM_006275.6:c.667C>T MANE Select	NP_006266.2:p.Arg223Cys
NR_034009.2:n.1073C>T