Canonical Allele Identifier: CA1727734353

Gene: SEM1

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.96504219T>A , CM000669.2:g.96504219T>A	GRCh38
NC_000007.13:g.96133531T>A , CM000669.1:g.96133531T>A	GRCh37
NC_000007.12:g.95971467T>A	NCBI36
NG_009273.2:g.210673A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466986.5:c.*60+2404A>T	ENSP00000481400.1:n.*60+2404A>T
ENST00000613919.4:c.*252+2404A>T	ENSP00000482085.1:n.*252+2404A>T
ENST00000617133.4:c.*198+2404A>T	ENSP00000484726.1:n.*198+2404A>T
ENST00000618105.4:c.*116+2404A>T	ENSP00000484478.1:n.*116+2404A>T
ENST00000619259.4:c.*60+2404A>T	ENSP00000480885.1:n.*60+2404A>T
XR_927780.1:n.461+26T>A
NM_001349698.1:c.30+2404A>T	NP_001336627.1:n.30+2404A>T
NM_001349700.1:c.30+2404A>T	NP_001336629.1:n.30+2404A>T
NM_001349701.1:c.-47+2404A>T	NP_001336630.1:n.-47+2404A>T
NM_001349702.1:c.-47+2404A>T	NP_001336631.1:n.-47+2404A>T
XR_927780.2:n.517+26T>A
NR_163950.1:n.536+2404A>T
NR_163951.1:n.329+2404A>T
NR_163952.1:n.458+2404A>T
NR_163953.1:n.329+2404A>T