Canonical Allele Identifier: CA966268

Gene: AGL

Linked Data

• ClinVar Variation Id: 1040822
• ClinVar RCV Id: RCV001344541
• dbSNP Id: rs754177225
• ExAC: 1:100336105 C / A
• gnomAD v2: 1-100336105-C-A
• gnomAD v3: 1-99870549-C-A
• gnomAD v4: 1-99870549-C-A
• MyVariant Identifiers: chr1:g.100336105C>A (hg19) ; chr1:g.99870549C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99870549C>A , CM000663.2:g.99870549C>A	GRCh38
NC_000001.10:g.100336105C>A , CM000663.1:g.100336105C>A	GRCh37
NC_000001.9:g.100108693C>A	NCBI36
NG_012865.1:g.25466C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.814C>A MANE Select	ENSP00000355106.3:p.Pro272Thr
ENST00000637337.1:n.1025C>A
ENST00000294724.8:c.814C>A	ENSP00000294724.4:p.Pro272Thr
ENST00000361302.7:c.766C>A	ENSP00000354971.3:p.Pro256Thr
ENST00000361522.4:c.763C>A	ENSP00000354635.4:p.Pro255Thr
ENST00000361915.7:c.814C>A	ENSP00000355106.3:p.Pro272Thr
ENST00000370161.6:c.766C>A	ENSP00000359180.2:p.Pro256Thr
ENST00000370163.7:c.814C>A	ENSP00000359182.3:p.Pro272Thr
ENST00000370165.7:c.814C>A	ENSP00000359184.3:p.Pro272Thr
NM_000028.2:c.814C>A	NP_000019.2:p.Pro272Thr
NM_000642.2:c.814C>A	NP_000633.2:p.Pro272Thr
NM_000643.2:c.814C>A	NP_000634.2:p.Pro272Thr
NM_000644.2:c.814C>A	NP_000635.2:p.Pro272Thr
NM_000645.2:c.763C>A	NP_000636.2:p.Pro255Thr
NM_000646.2:c.766C>A	NP_000637.2:p.Pro256Thr
XM_005270557.1:c.814C>A	XP_005270614.1:p.Pro272Thr
XM_005270557.2:c.814C>A	XP_005270614.1:p.Pro272Thr
NM_000642.3:c.814C>A MANE Select	NP_000633.2:p.Pro272Thr