Canonical Allele Identifier: CA510736952

Gene: SRSF6

Linked Data

• gnomAD v4: 20-43460718-C-T
• MyVariant Identifiers: chr20:g.42089358C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.43460718C>T , CM000682.2:g.43460718C>T	GRCh38
NC_000020.10:g.42089358C>T , CM000682.1:g.42089358C>T	GRCh37
NC_000020.9:g.41522772C>T	NCBI36
NG_029906.1:g.7855C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000244020.5:c.690C>T MANE Select	ENSP00000244020.3:p.Ser230=
ENST00000657241.1:c.654+120C>T
ENST00000662078.1:c.674+120C>T	ENSP00000499666.1:n.674+120C>T
ENST00000668808.1:c.690C>T	ENSP00000499517.1:p.Ser230=
ENST00000670741.1:c.674+120C>T	ENSP00000499492.1:n.674+120C>T
ENST00000671022.1:n.780C>T
ENST00000244020.4:c.690C>T	ENSP00000244020.3:p.Ser230=
ENST00000483871.6:c.*550C>T	ENSP00000433544.1:n.*550C>T
NM_006275.5:c.690C>T	NP_006266.2:p.Ser230=
NR_034009.1:n.1128C>T
XR_936608.1:n.1449C>T
XR_936608.2:n.1449C>T
NM_006275.6:c.690C>T MANE Select	NP_006266.2:p.Ser230=
NR_034009.2:n.1096C>T