Canonical Allele Identifier: CA399946577

Gene: SRSF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58006514C>T , CM000679.2:g.58006514C>T	GRCh38
NC_000017.10:g.56083875C>T , CM000679.1:g.56083875C>T	GRCh37
NC_000017.9:g.53438874C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006924.5:c.208G>A MANE Select	NP_008855.1:p.Ala70Thr
ENST00000258962.5:c.208G>A MANE Select	ENSP00000258962.4:p.Ala70Thr
NM_001078166.1:c.208G>A	NP_001071634.1:p.Ala70Thr
NM_001078166.2:c.208G>A	NP_001071634.1:p.Ala70Thr
NM_006924.4:c.208G>A	NP_008855.1:p.Ala70Thr
NR_034041.1:n.417G>A
NR_034041.2:n.317G>A
ENST00000258962.4:c.208G>A	ENSP00000258962.4:p.Ala70Thr
ENST00000578430.1:n.417G>A
ENST00000578794.2:c.208G>A	ENSP00000463235.2:p.Ala70Thr
ENST00000581979.5:c.208G>A	ENSP00000463223.1:p.Ala70Thr
ENST00000582730.6:c.208G>A	ENSP00000462215.1:p.Ala70Thr
ENST00000583741.1:c.*47G>A	ENSP00000463917.1:n.*47G>A
ENST00000584773.5:c.208G>A	ENSP00000463042.1:p.Ala70Thr
ENST00000585096.1:c.208G>A	ENSP00000462687.1:p.Ala70Thr
XM_006722012.2:c.208G>A	XP_006722075.1:p.Ala70Thr
XR_429911.2:n.344G>A
XR_429911.3:n.344G>A
XR_429912.2:n.344G>A