Canonical Allele Identifier: CA925080666

Gene: SEPHS1

Linked Data

• dbSNP Id: rs1833041601
• gnomAD v3: 10-13319609-T-A
• gnomAD v4: 10-13319609-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13319609T>A , CM000672.2:g.13319609T>A	GRCh38
NC_000010.10:g.13361609T>A , CM000672.1:g.13361609T>A	GRCh37
NC_000010.9:g.13401615T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327347.10:c.965-253A>T MANE Select	ENSP00000367893.3:n.965-253A>T
ENST00000327347.9:c.965-253A>T	ENSP00000367893.3:n.965-253A>T
ENST00000378614.8:c.752-253A>T	ENSP00000367877.3:n.752-253A>T
ENST00000545675.5:c.764-253A>T	ENSP00000441119.2:n.764-253A>T
NM_001195602.1:c.764-253A>T	NP_001182531.1:n.764-253A>T
NM_001195604.1:c.752-253A>T	NP_001182533.1:n.752-253A>T
NM_012247.4:c.965-253A>T	NP_036379.2:n.965-253A>T
XM_006717433.1:c.959-253A>T	XP_006717496.1:n.959-253A>T
XM_017015943.2:c.965-253A>T	XP_016871432.1:n.965-253A>T
XM_017015944.2:c.959-253A>T	XP_016871433.1:n.959-253A>T
XM_017015945.2:c.764-253A>T	XP_016871434.1:n.764-253A>T
NM_012247.5:c.965-253A>T MANE Select	NP_036379.2:n.965-253A>T
NM_001195604.2:c.752-253A>T	NP_001182533.1:n.752-253A>T
NM_001375769.1:c.959-253A>T	NP_001362698.1:n.959-253A>T
NR_164738.1:n.1555-253A>T
NM_001195602.2:c.764-253A>T	NP_001182531.1:n.764-253A>T