Canonical Allele Identifier: CA409071353

Gene: SRSF6

Linked Data

• dbSNP Id: rs770022409
• gnomAD v4: 20-43460738-G-T
• MyVariant Identifiers: chr20:g.42089378G>T (hg19) ; chr20:g.43460738G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.43460738G>T , CM000682.2:g.43460738G>T	GRCh38
NC_000020.10:g.42089378G>T , CM000682.1:g.42089378G>T	GRCh37
NC_000020.9:g.41522792G>T	NCBI36
NG_029906.1:g.7875G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244020.5:c.710G>T MANE Select	ENSP00000244020.3:p.Arg237Leu
ENST00000657241.1:c.654+140G>T
ENST00000662078.1:c.674+140G>T	ENSP00000499666.1:n.674+140G>T
ENST00000668808.1:c.710G>T	ENSP00000499517.1:p.Arg237Leu
ENST00000670741.1:c.674+140G>T	ENSP00000499492.1:n.674+140G>T
ENST00000671022.1:n.800G>T
ENST00000244020.4:c.710G>T	ENSP00000244020.3:p.Arg237Leu
ENST00000483871.6:c.*570G>T	ENSP00000433544.1:n.*570G>T
NM_006275.5:c.710G>T	NP_006266.2:p.Arg237Leu
NR_034009.1:n.1148G>T
XR_936608.1:n.1469G>T
XR_936608.2:n.1469G>T
NM_006275.6:c.710G>T MANE Select	NP_006266.2:p.Arg237Leu
NR_034009.2:n.1116G>T