Canonical Allele Identifier: CA9865258
Gene: SRSF6 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.43460871T>C
GRCh37 chr20:g.42089511T>C
gnomAD v2:
20:42089511 T / C
gnomAD v3:
20:43460871 T / C
gnomAD v4:
chr20-43460871-T-C
Joint Max Group AF 0.95829969 (AFR)
Genomes Max Group AF 0.95500699 (AFR)
Exomes Max Group AF 0.95695326 (AFR)
dbSNP:
2235611
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.43460871T>C , CM000682.2:g.43460871T>C GRCh38
NC_000020.10:g.42089511T>C , CM000682.1:g.42089511T>C GRCh37
NC_000020.9:g.41522925T>C NCBI36
NG_029906.1:g.8008T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000244020.5:c.843T>C MANE Select ENSP00000244020.3:p.Pro281=
ENST00000657241.1:c.654+273T>C
ENST00000662078.1:c.674+273T>C ENSP00000499666.1:n.674+273T>C
ENST00000668808.1:c.824+19T>C ENSP00000499517.1:n.824+19T>C
ENST00000670741.1:c.674+273T>C ENSP00000499492.1:n.674+273T>C
ENST00000671022.1:n.933T>C
ENST00000244020.4:c.843T>C ENSP00000244020.3:p.Pro281=
ENST00000483871.6:c.*703T>C ENSP00000433544.1:n.*703T>C
NM_006275.5:c.843T>C NP_006266.2:p.Pro281=
NR_034009.1:n.1281T>C
XR_936608.1:n.1602T>C
XR_936608.2:n.1602T>C
NM_006275.6:c.843T>C MANE Select NP_006266.2:p.Pro281=
NR_034009.2:n.1249T>C
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