Canonical Allele Identifier: CA10610494

Gene: AGL

Linked Data

• ClinVar Variation Id: 291351
• ClinVar RCV Id: RCV000407316 ; RCV001689959
• dbSNP Id: rs1804808
• gnomAD v2: 1-100387479-G-T
• gnomAD v3: 1-99921923-G-T
• gnomAD v4: 1-99921923-G-T
• MyVariant Identifiers: chr1:g.100387479G>T (hg19) ; chr1:g.99921923G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99921923G>T , CM000663.2:g.99921923G>T	GRCh38
NC_000001.10:g.100387479G>T , CM000663.1:g.100387479G>T	GRCh37
NC_000001.9:g.100160067G>T	NCBI36
NG_012865.1:g.76840G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.*272G>T MANE Select	ENSP00000355106.3:n.*272G>T
ENST00000637337.1:n.5082G>T
ENST00000294724.8:c.*272G>T	ENSP00000294724.4:n.*272G>T
ENST00000361302.7:c.*272G>T	ENSP00000354971.3:n.*272G>T
ENST00000361522.4:c.*272G>T	ENSP00000354635.4:n.*272G>T
ENST00000361915.7:c.*272G>T	ENSP00000355106.3:n.*272G>T
ENST00000370161.6:c.4823G>T	ENSP00000359180.2:n.4823G>T
ENST00000370163.7:c.*272G>T	ENSP00000359182.3:n.*272G>T
ENST00000370165.7:c.*272G>T	ENSP00000359184.3:n.*272G>T
NM_000028.2:c.*272G>T	NP_000019.2:n.*272G>T
NM_000642.2:c.*272G>T	NP_000633.2:n.*272G>T
NM_000643.2:c.*272G>T	NP_000634.2:n.*272G>T
NM_000644.2:c.*272G>T	NP_000635.2:n.*272G>T
NM_000645.2:c.*272G>T	NP_000636.2:n.*272G>T
NM_000646.2:c.*272G>T	NP_000637.2:n.*272G>T
XM_005270557.1:c.*272G>T	XP_005270614.1:n.*272G>T
XR_947626.1:n.1317+2315C>A
XR_947627.1:n.1206+2315C>A
XR_947628.1:n.1311+2315C>A
XR_947630.1:n.1249+2315C>A
XR_947632.1:n.1135+2315C>A
XR_947633.1:n.1246+2315C>A
XR_947634.1:n.660+2315C>A
XR_947635.1:n.728+2315C>A
XM_005270557.2:c.*272G>T	XP_005270614.1:n.*272G>T
XM_017000501.2:c.*272G>T	XP_016855990.1:n.*272G>T
NM_000642.3:c.*272G>T MANE Select	NP_000633.2:n.*272G>T