Canonical Allele Identifier: CA9865187
Gene: SRSF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 2537058
ClinVar RCV Id: RCV004313091
dbSNP Id: rs148216368
ExAC: 20:42089232 G / A
gnomAD v2: 20-42089232-G-A
gnomAD v3: 20-43460592-G-A
gnomAD v4: 20-43460592-G-A
COSMIC: COSM1026963
MyVariant Identifiers: chr20:g.42089232G>A (hg19) chr20:g.43460592G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.43460592G>A , CM000682.2:g.43460592G>A GRCh38
NC_000020.10:g.42089232G>A , CM000682.1:g.42089232G>A GRCh37
NC_000020.9:g.41522646G>A NCBI36
NG_029906.1:g.7729G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000244020.5:c.668G>A MANE Select ENSP00000244020.3:p.Arg223His
ENST00000657241.1:c.648G>A
ENST00000662078.1:c.668G>A ENSP00000499666.1:p.Arg223His
ENST00000668808.1:c.668G>A ENSP00000499517.1:p.Arg223His
ENST00000670741.1:c.668G>A ENSP00000499492.1:p.Arg223His
ENST00000671022.1:n.758G>A
ENST00000244020.4:c.668G>A ENSP00000244020.3:p.Arg223His
ENST00000483871.6:c.*528G>A ENSP00000433544.1:n.*528G>A
NM_006275.5:c.668G>A NP_006266.2:p.Arg223His
NR_034009.1:n.1106G>A
XR_936608.1:n.1427G>A
XR_936608.2:n.1427G>A
NM_006275.6:c.668G>A MANE Select NP_006266.2:p.Arg223His
NR_034009.2:n.1074G>A
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