Canonical Allele Identifier: CA7890123

Gene: ALG1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5079808G>C , CM000678.2:g.5079808G>C	GRCh38
NC_000016.9:g.5129809G>C , CM000678.1:g.5129809G>C	GRCh37
NC_000016.8:g.5069810G>C	NCBI36
NG_009202.1:g.13000G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_019109.5:c.961+1G>C MANE Select	NP_061982.3:n.961+1G>C
ENST00000262374.10:c.961+1G>C MANE Select	ENSP00000262374.5:n.961+1G>C
NM_001330504.1:c.628+1G>C	NP_001317433.1:n.628+1G>C
NM_001330504.2:c.628+1G>C	NP_001317433.1:n.628+1G>C
NM_019109.4:c.961+1G>C	NP_061982.3:n.961+1G>C
ENST00000262374.9:c.961+1G>C	ENSP00000262374.4:n.961+1G>C
ENST00000544428.1:c.628+1G>C	ENSP00000440019.1:n.628+1G>C
ENST00000588623.5:c.628+1G>C	ENSP00000468118.1:n.628+1G>C
ENST00000591822.5:c.*862+1G>C	ENSP00000467865.1:n.*862+1G>C
ENST00000592793.6:n.3097+1G>C
ENST00000650085.1:n.1785+1G>C
ENST00000682020.1:c.367+1G>C	ENSP00000508075.1:n.367+1G>C
ENST00000682206.1:c.*53+1G>C	ENSP00000508285.1:n.*53+1G>C
ENST00000682314.1:n.1009+1G>C
ENST00000682327.1:c.433+1G>C	ENSP00000507058.1:n.433+1G>C
ENST00000682349.1:n.3103+1G>C
ENST00000682703.1:n.3929+1G>C
ENST00000682797.1:c.*53+1G>C	ENSP00000507582.1:n.*53+1G>C
ENST00000682985.1:c.472+1G>C	ENSP00000507598.1:n.472+1G>C
ENST00000683433.1:c.217+1G>C	ENSP00000507463.1:n.217+1G>C
ENST00000683685.1:n.1835+1G>C
ENST00000683710.1:c.*928+1G>C	ENSP00000506785.1:n.*928+1G>C
ENST00000683739.1:c.628+1G>C	ENSP00000507002.1:n.628+1G>C
ENST00000683772.1:n.1005+1G>C
ENST00000684008.1:c.899+1G>C	ENSP00000507962.1:n.899+1G>C
ENST00000684190.1:c.922+1G>C	ENSP00000507554.1:n.922+1G>C
ENST00000684335.1:c.961+1G>C	ENSP00000508112.1:n.961+1G>C
XM_011522565.1:c.628+1G>C	XP_011520867.1:n.628+1G>C
XM_017023457.2:c.922+1G>C	XP_016878946.1:n.922+1G>C
XM_017023458.1:c.628+1G>C	XP_016878947.1:n.628+1G>C
XR_932882.1:n.1006+1G>C
XR_932882.3:n.990+1G>C