Canonical Allele Identifier: CA409071279

Gene: SRSF6

Linked Data

• gnomAD v4: 20-43460717-G-A
• MyVariant Identifiers: chr20:g.42089357G>A (hg19) ; chr20:g.43460717G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.43460717G>A , CM000682.2:g.43460717G>A	GRCh38
NC_000020.10:g.42089357G>A , CM000682.1:g.42089357G>A	GRCh37
NC_000020.9:g.41522771G>A	NCBI36
NG_029906.1:g.7854G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244020.5:c.689G>A MANE Select	ENSP00000244020.3:p.Ser230Asn
ENST00000657241.1:c.654+119G>A
ENST00000662078.1:c.674+119G>A	ENSP00000499666.1:n.674+119G>A
ENST00000668808.1:c.689G>A	ENSP00000499517.1:p.Ser230Asn
ENST00000670741.1:c.674+119G>A	ENSP00000499492.1:n.674+119G>A
ENST00000671022.1:n.779G>A
ENST00000244020.4:c.689G>A	ENSP00000244020.3:p.Ser230Asn
ENST00000483871.6:c.*549G>A	ENSP00000433544.1:n.*549G>A
NM_006275.5:c.689G>A	NP_006266.2:p.Ser230Asn
NR_034009.1:n.1127G>A
XR_936608.1:n.1448G>A
XR_936608.2:n.1448G>A
NM_006275.6:c.689G>A MANE Select	NP_006266.2:p.Ser230Asn
NR_034009.2:n.1095G>A