Canonical Allele Identifier: CA409071134

Gene: SRSF6

Linked Data

• gnomAD v4: 20-43460571-C-A
• MyVariant Identifiers: chr20:g.42089211C>A (hg19) ; chr20:g.43460571C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.43460571C>A , CM000682.2:g.43460571C>A	GRCh38
NC_000020.10:g.42089211C>A , CM000682.1:g.42089211C>A	GRCh37
NC_000020.9:g.41522625C>A	NCBI36
NG_029906.1:g.7708C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244020.5:c.647C>A MANE Select	ENSP00000244020.3:p.Ser216Tyr
ENST00000657241.1:c.627C>A
ENST00000662078.1:c.647C>A	ENSP00000499666.1:p.Ser216Tyr
ENST00000668808.1:c.647C>A	ENSP00000499517.1:p.Ser216Tyr
ENST00000670741.1:c.647C>A	ENSP00000499492.1:p.Ser216Tyr
ENST00000671022.1:n.737C>A
ENST00000244020.4:c.647C>A	ENSP00000244020.3:p.Ser216Tyr
ENST00000483871.6:c.*507C>A	ENSP00000433544.1:n.*507C>A
NM_006275.5:c.647C>A	NP_006266.2:p.Ser216Tyr
NR_034009.1:n.1085C>A
XR_936608.1:n.1406C>A
XR_936608.2:n.1406C>A
NM_006275.6:c.647C>A MANE Select	NP_006266.2:p.Ser216Tyr
NR_034009.2:n.1053C>A