Canonical Allele Identifier: CA592081536

Gene: SEPHS1

Linked Data

• dbSNP Id: rs1217410641
• gnomAD v2: 10-13361903-G-T
• gnomAD v3: 10-13319903-G-T
• gnomAD v4: 10-13319903-G-T
• MyVariant Identifiers: chr10:g.13361903G>T (hg19) ; chr10:g.13319903G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13319903G>T , CM000672.2:g.13319903G>T	GRCh38
NC_000010.10:g.13361903G>T , CM000672.1:g.13361903G>T	GRCh37
NC_000010.9:g.13401909G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000327347.10:c.965-547C>A MANE Select	ENSP00000367893.3:n.965-547C>A
ENST00000327347.9:c.965-547C>A	ENSP00000367893.3:n.965-547C>A
ENST00000378614.8:c.752-547C>A	ENSP00000367877.3:n.752-547C>A
ENST00000545675.5:c.764-547C>A	ENSP00000441119.2:n.764-547C>A
NM_001195602.1:c.764-547C>A	NP_001182531.1:n.764-547C>A
NM_001195604.1:c.752-547C>A	NP_001182533.1:n.752-547C>A
NM_012247.4:c.965-547C>A	NP_036379.2:n.965-547C>A
XM_006717433.1:c.959-547C>A	XP_006717496.1:n.959-547C>A
XM_017015943.2:c.965-547C>A	XP_016871432.1:n.965-547C>A
XM_017015944.2:c.959-547C>A	XP_016871433.1:n.959-547C>A
XM_017015945.2:c.764-547C>A	XP_016871434.1:n.764-547C>A
NM_012247.5:c.965-547C>A MANE Select	NP_036379.2:n.965-547C>A
NM_001195604.2:c.752-547C>A	NP_001182533.1:n.752-547C>A
NM_001375769.1:c.959-547C>A	NP_001362698.1:n.959-547C>A
NR_164738.1:n.1555-547C>A
NM_001195602.2:c.764-547C>A	NP_001182531.1:n.764-547C>A