Canonical Allele Identifier: CA409071421

Gene: SRSF6

Linked Data

• gnomAD v4: 20-43460755-T-G
• MyVariant Identifiers: chr20:g.42089395T>G (hg19) ; chr20:g.43460755T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.43460755T>G , CM000682.2:g.43460755T>G	GRCh38
NC_000020.10:g.42089395T>G , CM000682.1:g.42089395T>G	GRCh37
NC_000020.9:g.41522809T>G	NCBI36
NG_029906.1:g.7892T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244020.5:c.727T>G MANE Select	ENSP00000244020.3:p.Ser243Ala
ENST00000657241.1:c.654+157T>G
ENST00000662078.1:c.674+157T>G	ENSP00000499666.1:n.674+157T>G
ENST00000668808.1:c.727T>G	ENSP00000499517.1:p.Ser243Ala
ENST00000670741.1:c.674+157T>G	ENSP00000499492.1:n.674+157T>G
ENST00000671022.1:n.817T>G
ENST00000244020.4:c.727T>G	ENSP00000244020.3:p.Ser243Ala
ENST00000483871.6:c.*587T>G	ENSP00000433544.1:n.*587T>G
NM_006275.5:c.727T>G	NP_006266.2:p.Ser243Ala
NR_034009.1:n.1165T>G
XR_936608.1:n.1486T>G
XR_936608.2:n.1486T>G
NM_006275.6:c.727T>G MANE Select	NP_006266.2:p.Ser243Ala
NR_034009.2:n.1133T>G