Canonical Allele Identifier: CA13237587

Gene: SEPHS1

Linked Data

• dbSNP Id: rs7901303
• gnomAD v2: 10-13378690-T-G
• gnomAD v3: 10-13336690-T-G
• gnomAD v4: 10-13336690-T-G
• MyVariant Identifiers: chr10:g.13378690T>G (hg19) ; chr10:g.13336690T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13336690T>G , CM000672.2:g.13336690T>G	GRCh38
NC_000010.10:g.13378690T>G , CM000672.1:g.13378690T>G	GRCh37
NC_000010.9:g.13418696T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000327347.10:c.298-340A>C MANE Select	ENSP00000367893.3:n.298-340A>C
ENST00000327347.9:c.298-340A>C	ENSP00000367893.3:n.298-340A>C
ENST00000378614.8:c.298-340A>C	ENSP00000367877.3:n.298-340A>C
ENST00000413411.5:c.298-340A>C	ENSP00000401732.1:n.298-340A>C
ENST00000425947.1:c.97-340A>C	ENSP00000400418.1:n.97-340A>C
ENST00000545675.5:c.97-340A>C	ENSP00000441119.2:n.97-340A>C
NM_001195602.1:c.97-340A>C	NP_001182531.1:n.97-340A>C
NM_001195604.1:c.298-340A>C	NP_001182533.1:n.298-340A>C
NM_012247.4:c.298-340A>C	NP_036379.2:n.298-340A>C
XM_006717433.1:c.298-340A>C	XP_006717496.1:n.298-340A>C
XM_017015943.2:c.298-340A>C	XP_016871432.1:n.298-340A>C
XM_017015944.2:c.298-340A>C	XP_016871433.1:n.298-340A>C
XM_017015945.2:c.97-340A>C	XP_016871434.1:n.97-340A>C
NM_012247.5:c.298-340A>C MANE Select	NP_036379.2:n.298-340A>C
NM_001195604.2:c.298-340A>C	NP_001182533.1:n.298-340A>C
NM_001375769.1:c.298-340A>C	NP_001362698.1:n.298-340A>C
NR_164738.1:n.888-340A>C
NM_001195602.2:c.97-340A>C	NP_001182531.1:n.97-340A>C