Canonical Allele Identifier: CA9865211

Gene: SRSF6

Linked Data

• dbSNP Id: rs191529117
• ExAC: 20:42089312 G / A
• gnomAD v2: 20-42089312-G-A
• gnomAD v3: 20-43460672-G-A
• gnomAD v4: 20-43460672-G-A
• MyVariant Identifiers: chr20:g.42089312G>A (hg19) ; chr20:g.43460672G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.43460672G>A , CM000682.2:g.43460672G>A	GRCh38
NC_000020.10:g.42089312G>A , CM000682.1:g.42089312G>A	GRCh37
NC_000020.9:g.41522726G>A	NCBI36
NG_029906.1:g.7809G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244020.5:c.675-31G>A MANE Select	ENSP00000244020.3:n.675-31G>A
ENST00000657241.1:c.654+74G>A
ENST00000662078.1:c.674+74G>A	ENSP00000499666.1:n.674+74G>A
ENST00000668808.1:c.675-31G>A	ENSP00000499517.1:n.675-31G>A
ENST00000670741.1:c.674+74G>A	ENSP00000499492.1:n.674+74G>A
ENST00000671022.1:n.765-31G>A
ENST00000244020.4:c.675-31G>A	ENSP00000244020.3:n.675-31G>A
ENST00000483871.6:c.*535-31G>A	ENSP00000433544.1:n.*535-31G>A
NM_006275.5:c.675-31G>A	NP_006266.2:n.675-31G>A
NR_034009.1:n.1113-31G>A
XR_936608.1:n.1434-31G>A
XR_936608.2:n.1434-31G>A
NM_006275.6:c.675-31G>A MANE Select	NP_006266.2:n.675-31G>A
NR_034009.2:n.1081-31G>A