Canonical Allele Identifier: CA9865223

Gene: SRSF6

Linked Data

• dbSNP Id: rs755113561
• ExAC: 20:42089371 C / T
• gnomAD v2: 20-42089371-C-T
• gnomAD v3: 20-43460731-C-T
• gnomAD v4: 20-43460731-C-T
• MyVariant Identifiers: chr20:g.42089371C>T (hg19) ; chr20:g.43460731C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.43460731C>T , CM000682.2:g.43460731C>T	GRCh38
NC_000020.10:g.42089371C>T , CM000682.1:g.42089371C>T	GRCh37
NC_000020.9:g.41522785C>T	NCBI36
NG_029906.1:g.7868C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244020.5:c.703C>T MANE Select	ENSP00000244020.3:p.Arg235Cys
ENST00000657241.1:c.654+133C>T
ENST00000662078.1:c.674+133C>T	ENSP00000499666.1:n.674+133C>T
ENST00000668808.1:c.703C>T	ENSP00000499517.1:p.Arg235Cys
ENST00000670741.1:c.674+133C>T	ENSP00000499492.1:n.674+133C>T
ENST00000671022.1:n.793C>T
ENST00000244020.4:c.703C>T	ENSP00000244020.3:p.Arg235Cys
ENST00000483871.6:c.*563C>T	ENSP00000433544.1:n.*563C>T
NM_006275.5:c.703C>T	NP_006266.2:p.Arg235Cys
NR_034009.1:n.1141C>T
XR_936608.1:n.1462C>T
XR_936608.2:n.1462C>T
NM_006275.6:c.703C>T MANE Select	NP_006266.2:p.Arg235Cys
NR_034009.2:n.1109C>T