Canonical Allele Identifier: CA2549789121

Gene: SFSWAP

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.131754891C>A , CM000674.2:g.131754891C>A	GRCh38
NC_000012.11:g.132239436C>A , CM000674.1:g.132239436C>A	GRCh37
NC_000012.10:g.130805389C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261674.9:c.1454+392C>A MANE Select	ENSP00000261674.4:n.1454+392C>A
ENST00000261674.8:c.1454+392C>A	ENSP00000261674.4:n.1454+392C>A
ENST00000535236.5:n.4788+392C>A
ENST00000537164.1:c.373+392C>A
ENST00000538548.5:c.*1041+392C>A	ENSP00000445832.1:n.*1041+392C>A
ENST00000541286.5:c.1454+392C>A	ENSP00000437738.1:n.1454+392C>A
NM_001261411.1:c.1454+392C>A	NP_001248340.1:n.1454+392C>A
NM_004592.3:c.1454+392C>A	NP_004583.2:n.1454+392C>A
XM_011538653.1:c.1454+392C>A	XP_011536955.1:n.1454+392C>A
XM_011538654.1:c.1076+392C>A	XP_011536956.1:n.1076+392C>A
XM_011538655.1:c.1454+392C>A	XP_011536957.1:n.1454+392C>A
XM_011538654.2:c.1076+392C>A	XP_011536956.1:n.1076+392C>A
XM_011538655.2:c.1454+392C>A	XP_011536957.1:n.1454+392C>A
XM_017019798.1:c.1454+392C>A	XP_016875287.1:n.1454+392C>A
XM_017019799.1:c.833+392C>A	XP_016875288.1:n.833+392C>A
XM_024449125.1:c.1076+392C>A	XP_024304893.1:n.1076+392C>A
XM_024449126.1:c.1076+392C>A	XP_024304894.1:n.1076+392C>A
NM_001261411.2:c.1454+392C>A	NP_001248340.1:n.1454+392C>A
NM_004592.4:c.1454+392C>A MANE Select	NP_004583.2:n.1454+392C>A