Canonical Allele Identifier: CA1104718022

Gene: SEM1

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96488606G>T , CM000669.2:g.96488606G>T	GRCh38
NC_000007.13:g.96117918G>T , CM000669.1:g.96117918G>T	GRCh37
NC_000007.12:g.95955854G>T	NCBI36
NG_009273.2:g.226286C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356686.2:c.13-2189C>A	ENSP00000349114.1:n.13-2189C>A
ENST00000466986.5:c.*61-2189C>A	ENSP00000481400.1:n.*61-2189C>A
ENST00000493858.5:n.100-2189C>A
ENST00000611360.4:n.87-2189C>A
ENST00000613919.4:c.*253-2189C>A	ENSP00000482085.1:n.*253-2189C>A
ENST00000615352.4:c.13-2189C>A	ENSP00000481021.1:n.13-2189C>A
ENST00000617133.4:c.*257-2189C>A	ENSP00000484726.1:n.*257-2189C>A
ENST00000618105.4:c.*117-2189C>A	ENSP00000484478.1:n.*117-2189C>A
ENST00000619259.4:c.*119-2189C>A	ENSP00000480885.1:n.*119-2189C>A
NM_001201450.1:c.13-2189C>A	NP_001188379.1:n.13-2189C>A
NM_001201451.1:c.13-2189C>A	NP_001188380.1:n.13-2189C>A
XR_927780.1:n.153-8952G>T
NM_001349698.1:c.31-2189C>A	NP_001336627.1:n.31-2189C>A
NM_001349700.1:c.31-2189C>A	NP_001336629.1:n.31-2189C>A
NM_001349701.1:c.13-2189C>A	NP_001336630.1:n.13-2189C>A
NM_001349702.1:c.13-2189C>A	NP_001336631.1:n.13-2189C>A
XM_024446934.1:c.13-2189C>A	XP_024302702.1:n.13-2189C>A
XR_927780.2:n.209-8952G>T
NR_163948.1:n.100-2189C>A
NR_163949.1:n.100-2189C>A
NR_163950.1:n.537-2189C>A
NR_163951.1:n.330-2189C>A
NR_163952.1:n.517-2189C>A
NR_163953.1:n.388-2189C>A