Canonical Allele Identifier: CA2566023392

Gene: AGL

Linked Data

• ClinVar Variation Id: 2081043
• ClinVar RCV Id: RCV002993981

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99880799A>C , CM000663.2:g.99880799A>C	GRCh38
NC_000001.10:g.100346355A>C , CM000663.1:g.100346355A>C	GRCh37
NC_000001.9:g.100118943A>C	NCBI36
NG_012865.1:g.35716A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.1899+4A>C MANE Select	ENSP00000355106.3:n.1899+4A>C
ENST00000637337.1:n.2110+4A>C
ENST00000294724.8:c.1899+4A>C	ENSP00000294724.4:n.1899+4A>C
ENST00000361302.7:c.1851+4A>C	ENSP00000354971.3:n.1851+4A>C
ENST00000361522.4:c.1848+4A>C	ENSP00000354635.4:n.1848+4A>C
ENST00000361915.7:c.1899+4A>C	ENSP00000355106.3:n.1899+4A>C
ENST00000370161.6:c.1851+4A>C	ENSP00000359180.2:n.1851+4A>C
ENST00000370163.7:c.1899+4A>C	ENSP00000359182.3:n.1899+4A>C
ENST00000370165.7:c.1899+4A>C	ENSP00000359184.3:n.1899+4A>C
NM_000028.2:c.1899+4A>C	NP_000019.2:n.1899+4A>C
NM_000642.2:c.1899+4A>C	NP_000633.2:n.1899+4A>C
NM_000643.2:c.1899+4A>C	NP_000634.2:n.1899+4A>C
NM_000644.2:c.1899+4A>C	NP_000635.2:n.1899+4A>C
NM_000645.2:c.1848+4A>C	NP_000636.2:n.1848+4A>C
NM_000646.2:c.1851+4A>C	NP_000637.2:n.1851+4A>C
XM_005270557.1:c.1899+4A>C	XP_005270614.1:n.1899+4A>C
XM_005270557.2:c.1899+4A>C	XP_005270614.1:n.1899+4A>C
XM_017000501.2:c.159+4A>C	XP_016855990.1:n.159+4A>C
NM_000642.3:c.1899+4A>C MANE Select	NP_000633.2:n.1899+4A>C