Canonical Allele Identifier: CA341332967

Gene: AGL

Linked Data

• ClinVar Variation Id: 983783
• ClinVar RCV Id: RCV001263786
• dbSNP Id: rs1650125542
• MyVariant Identifiers: chr1:g.100327973G>T (hg19) ; chr1:g.99862417G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99862417G>T , CM000663.2:g.99862417G>T	GRCh38
NC_000001.10:g.100327973G>T , CM000663.1:g.100327973G>T	GRCh37
NC_000001.9:g.100100561G>T	NCBI36
NG_012865.1:g.17334G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361915.8:c.454G>T MANE Select	ENSP00000355106.3:p.Glu152Ter
ENST00000637337.1:n.665G>T
ENST00000294724.8:c.454G>T	ENSP00000294724.4:p.Glu152Ter
ENST00000361302.7:c.406G>T	ENSP00000354971.3:p.Glu136Ter
ENST00000361522.4:c.403G>T	ENSP00000354635.4:p.Glu135Ter
ENST00000361915.7:c.454G>T	ENSP00000355106.3:p.Glu152Ter
ENST00000370161.6:c.406G>T	ENSP00000359180.2:p.Glu136Ter
ENST00000370163.7:c.454G>T	ENSP00000359182.3:p.Glu152Ter
ENST00000370165.7:c.454G>T	ENSP00000359184.3:p.Glu152Ter
NM_000028.2:c.454G>T	NP_000019.2:p.Glu152Ter
NM_000642.2:c.454G>T	NP_000633.2:p.Glu152Ter
NM_000643.2:c.454G>T	NP_000634.2:p.Glu152Ter
NM_000644.2:c.454G>T	NP_000635.2:p.Glu152Ter
NM_000645.2:c.403G>T	NP_000636.2:p.Glu135Ter
NM_000646.2:c.406G>T	NP_000637.2:p.Glu136Ter
XM_005270557.1:c.454G>T	XP_005270614.1:p.Glu152Ter
XM_005270557.2:c.454G>T	XP_005270614.1:p.Glu152Ter
NM_000642.3:c.454G>T MANE Select	NP_000633.2:p.Glu152Ter