Canonical Allele Identifier: CA524720812

Gene: AGL

Linked Data

• dbSNP Id: rs1175149895
• gnomAD v2: 1-100340851-T-G
• gnomAD v3: 1-99875295-T-G
• gnomAD v4: 1-99875295-T-G
• MyVariant Identifiers: chr1:g.100340851T>G (hg19) ; chr1:g.99875295T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99875295T>G , CM000663.2:g.99875295T>G	GRCh38
NC_000001.10:g.100340851T>G , CM000663.1:g.100340851T>G	GRCh37
NC_000001.9:g.100113439T>G	NCBI36
NG_012865.1:g.30212T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361915.8:c.1185+39T>G MANE Select	ENSP00000355106.3:n.1185+39T>G
ENST00000637337.1:n.1396+39T>G
ENST00000294724.8:c.1185+39T>G	ENSP00000294724.4:n.1185+39T>G
ENST00000361302.7:c.1137+39T>G	ENSP00000354971.3:n.1137+39T>G
ENST00000361522.4:c.1134+39T>G	ENSP00000354635.4:n.1134+39T>G
ENST00000361915.7:c.1185+39T>G	ENSP00000355106.3:n.1185+39T>G
ENST00000370161.6:c.1137+39T>G	ENSP00000359180.2:n.1137+39T>G
ENST00000370163.7:c.1185+39T>G	ENSP00000359182.3:n.1185+39T>G
ENST00000370165.7:c.1185+39T>G	ENSP00000359184.3:n.1185+39T>G
ENST00000477753.1:n.444+39T>G
NM_000028.2:c.1185+39T>G	NP_000019.2:n.1185+39T>G
NM_000642.2:c.1185+39T>G	NP_000633.2:n.1185+39T>G
NM_000643.2:c.1185+39T>G	NP_000634.2:n.1185+39T>G
NM_000644.2:c.1185+39T>G	NP_000635.2:n.1185+39T>G
NM_000645.2:c.1134+39T>G	NP_000636.2:n.1134+39T>G
NM_000646.2:c.1137+39T>G	NP_000637.2:n.1137+39T>G
XM_005270557.1:c.1185+39T>G	XP_005270614.1:n.1185+39T>G
XM_005270557.2:c.1185+39T>G	XP_005270614.1:n.1185+39T>G
NM_000642.3:c.1185+39T>G MANE Select	NP_000633.2:n.1185+39T>G