Canonical Allele Identifier: CA409071941

Gene: SRSF6

Linked Data

• MyVariant Identifiers: chr20:g.42089533A>C (hg19) ; chr20:g.43460893A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.43460893A>C , CM000682.2:g.43460893A>C	GRCh38
NC_000020.10:g.42089533A>C , CM000682.1:g.42089533A>C	GRCh37
NC_000020.9:g.41522947A>C	NCBI36
NG_029906.1:g.8030A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244020.5:c.865A>C MANE Select	ENSP00000244020.3:p.Ile289Leu
ENST00000657241.1:c.654+295A>C
ENST00000662078.1:c.674+295A>C	ENSP00000499666.1:n.674+295A>C
ENST00000668808.1:c.824+41A>C	ENSP00000499517.1:n.824+41A>C
ENST00000670741.1:c.674+295A>C	ENSP00000499492.1:n.674+295A>C
ENST00000671022.1:n.955A>C
ENST00000244020.4:c.865A>C	ENSP00000244020.3:p.Ile289Leu
ENST00000483871.6:c.*725A>C	ENSP00000433544.1:n.*725A>C
NM_006275.5:c.865A>C	NP_006266.2:p.Ile289Leu
NR_034009.1:n.1303A>C
XR_936608.2:n.1624A>C
NM_006275.6:c.865A>C MANE Select	NP_006266.2:p.Ile289Leu
NR_034009.2:n.1271A>C