Canonical Allele Identifier: CA510736947
Gene: SRSF6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.42089355G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.43460715G>T , CM000682.2:g.43460715G>T GRCh38
NC_000020.10:g.42089355G>T , CM000682.1:g.42089355G>T GRCh37
NC_000020.9:g.41522769G>T NCBI36
NG_029906.1:g.7852G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000244020.5:c.687G>T MANE Select ENSP00000244020.3:p.Arg229=
ENST00000657241.1:c.654+117G>T
ENST00000662078.1:c.674+117G>T ENSP00000499666.1:n.674+117G>T
ENST00000668808.1:c.687G>T ENSP00000499517.1:p.Arg229=
ENST00000670741.1:c.674+117G>T ENSP00000499492.1:n.674+117G>T
ENST00000671022.1:n.777G>T
ENST00000244020.4:c.687G>T ENSP00000244020.3:p.Arg229=
ENST00000483871.6:c.*547G>T ENSP00000433544.1:n.*547G>T
NM_006275.5:c.687G>T NP_006266.2:p.Arg229=
NR_034009.1:n.1125G>T
XR_936608.1:n.1446G>T
XR_936608.2:n.1446G>T
NM_006275.6:c.687G>T MANE Select NP_006266.2:p.Arg229=
NR_034009.2:n.1093G>T