Canonical Allele Identifier: CA966263

Gene: AGL

Linked Data

• ClinVar Variation Id: 2051746
• ClinVar RCV Id: RCV002904909
• dbSNP Id: rs762988561
• ExAC: 1:100336054 T / C
• gnomAD v2: 1-100336054-T-C
• gnomAD v3: 1-99870498-T-C
• gnomAD v4: 1-99870498-T-C
• MyVariant Identifiers: chr1:g.100336054T>C (hg19) ; chr1:g.99870498T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99870498T>C , CM000663.2:g.99870498T>C	GRCh38
NC_000001.10:g.100336054T>C , CM000663.1:g.100336054T>C	GRCh37
NC_000001.9:g.100108642T>C	NCBI36
NG_012865.1:g.25415T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.763T>C MANE Select	ENSP00000355106.3:p.Trp255Arg
ENST00000637337.1:n.974T>C
ENST00000294724.8:c.763T>C	ENSP00000294724.4:p.Trp255Arg
ENST00000361302.7:c.715T>C	ENSP00000354971.3:p.Trp239Arg
ENST00000361522.4:c.712T>C	ENSP00000354635.4:p.Trp238Arg
ENST00000361915.7:c.763T>C	ENSP00000355106.3:p.Trp255Arg
ENST00000370161.6:c.715T>C	ENSP00000359180.2:p.Trp239Arg
ENST00000370163.7:c.763T>C	ENSP00000359182.3:p.Trp255Arg
ENST00000370165.7:c.763T>C	ENSP00000359184.3:p.Trp255Arg
NM_000028.2:c.763T>C	NP_000019.2:p.Trp255Arg
NM_000642.2:c.763T>C	NP_000633.2:p.Trp255Arg
NM_000643.2:c.763T>C	NP_000634.2:p.Trp255Arg
NM_000644.2:c.763T>C	NP_000635.2:p.Trp255Arg
NM_000645.2:c.712T>C	NP_000636.2:p.Trp238Arg
NM_000646.2:c.715T>C	NP_000637.2:p.Trp239Arg
XM_005270557.1:c.763T>C	XP_005270614.1:p.Trp255Arg
XM_005270557.2:c.763T>C	XP_005270614.1:p.Trp255Arg
NM_000642.3:c.763T>C MANE Select	NP_000633.2:p.Trp255Arg