Canonical Allele Identifier: CA9865199

Gene: SRSF6

Linked Data

• dbSNP Id: rs757143723
• ExAC: 20:42089268 A / C
• gnomAD v2: 20-42089268-A-C
• gnomAD v4: 20-43460628-A-C
• MyVariant Identifiers: chr20:g.42089268A>C (hg19) ; chr20:g.43460628A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.43460628A>C , CM000682.2:g.43460628A>C	GRCh38
NC_000020.10:g.42089268A>C , CM000682.1:g.42089268A>C	GRCh37
NC_000020.9:g.41522682A>C	NCBI36
NG_029906.1:g.7765A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244020.5:c.674+30A>C MANE Select	ENSP00000244020.3:n.674+30A>C
ENST00000657241.1:c.654+30A>C
ENST00000662078.1:c.674+30A>C	ENSP00000499666.1:n.674+30A>C
ENST00000668808.1:c.674+30A>C	ENSP00000499517.1:n.674+30A>C
ENST00000670741.1:c.674+30A>C	ENSP00000499492.1:n.674+30A>C
ENST00000671022.1:n.764+30A>C
ENST00000244020.4:c.674+30A>C	ENSP00000244020.3:n.674+30A>C
ENST00000483871.6:c.*534+30A>C	ENSP00000433544.1:n.*534+30A>C
NM_006275.5:c.674+30A>C	NP_006266.2:n.674+30A>C
NR_034009.1:n.1112+30A>C
XR_936608.1:n.1433+30A>C
XR_936608.2:n.1433+30A>C
NM_006275.6:c.674+30A>C MANE Select	NP_006266.2:n.674+30A>C
NR_034009.2:n.1080+30A>C