Canonical Allele Identifier: CA409071320

Gene: SRSF6

Linked Data

• MyVariant Identifiers: chr20:g.42089368T>C (hg19) ; chr20:g.43460728T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.43460728T>C , CM000682.2:g.43460728T>C	GRCh38
NC_000020.10:g.42089368T>C , CM000682.1:g.42089368T>C	GRCh37
NC_000020.9:g.41522782T>C	NCBI36
NG_029906.1:g.7865T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244020.5:c.700T>C MANE Select	ENSP00000244020.3:p.Ser234Pro
ENST00000657241.1:c.654+130T>C
ENST00000662078.1:c.674+130T>C	ENSP00000499666.1:n.674+130T>C
ENST00000668808.1:c.700T>C	ENSP00000499517.1:p.Ser234Pro
ENST00000670741.1:c.674+130T>C	ENSP00000499492.1:n.674+130T>C
ENST00000671022.1:n.790T>C
ENST00000244020.4:c.700T>C	ENSP00000244020.3:p.Ser234Pro
ENST00000483871.6:c.*560T>C	ENSP00000433544.1:n.*560T>C
NM_006275.5:c.700T>C	NP_006266.2:p.Ser234Pro
NR_034009.1:n.1138T>C
XR_936608.1:n.1459T>C
XR_936608.2:n.1459T>C
NM_006275.6:c.700T>C MANE Select	NP_006266.2:p.Ser234Pro
NR_034009.2:n.1106T>C