Canonical Allele Identifier: CA13259605

Gene: SEPHS1

Linked Data

• dbSNP Id: rs1747683
• gnomAD v2: 10-13361976-A-G
• gnomAD v3: 10-13319976-A-G
• gnomAD v4: 10-13319976-A-G
• MyVariant Identifiers: chr10:g.13361976A>G (hg19) ; chr10:g.13319976A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13319976A>G , CM000672.2:g.13319976A>G	GRCh38
NC_000010.10:g.13361976A>G , CM000672.1:g.13361976A>G	GRCh37
NC_000010.9:g.13401982A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000327347.10:c.965-620T>C MANE Select	ENSP00000367893.3:n.965-620T>C
ENST00000327347.9:c.965-620T>C	ENSP00000367893.3:n.965-620T>C
ENST00000378614.8:c.752-620T>C	ENSP00000367877.3:n.752-620T>C
ENST00000545675.5:c.764-620T>C	ENSP00000441119.2:n.764-620T>C
NM_001195602.1:c.764-620T>C	NP_001182531.1:n.764-620T>C
NM_001195604.1:c.752-620T>C	NP_001182533.1:n.752-620T>C
NM_012247.4:c.965-620T>C	NP_036379.2:n.965-620T>C
XM_006717433.1:c.959-620T>C	XP_006717496.1:n.959-620T>C
XM_017015943.2:c.965-620T>C	XP_016871432.1:n.965-620T>C
XM_017015944.2:c.959-620T>C	XP_016871433.1:n.959-620T>C
XM_017015945.2:c.764-620T>C	XP_016871434.1:n.764-620T>C
NM_012247.5:c.965-620T>C MANE Select	NP_036379.2:n.965-620T>C
NM_001195604.2:c.752-620T>C	NP_001182533.1:n.752-620T>C
NM_001375769.1:c.959-620T>C	NP_001362698.1:n.959-620T>C
NR_164738.1:n.1555-620T>C
NM_001195602.2:c.764-620T>C	NP_001182531.1:n.764-620T>C