Canonical Allele Identifier: CA966956

Gene: AGL

Linked Data

• ClinVar Variation Id: 2197595
• ClinVar RCV Id: RCV002637818
• dbSNP Id: rs534210500
• ExAC: 1:100357261 A / T
• gnomAD v2: 1-100357261-A-T
• gnomAD v3: 1-99891705-A-T
• gnomAD v4: 1-99891705-A-T
• MyVariant Identifiers: chr1:g.100357261A>T (hg19) ; chr1:g.99891705A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99891705A>T , CM000663.2:g.99891705A>T	GRCh38
NC_000001.10:g.100357261A>T , CM000663.1:g.100357261A>T	GRCh37
NC_000001.9:g.100129849A>T	NCBI36
NG_012865.1:g.46622A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.3049A>T MANE Select	ENSP00000355106.3:p.Thr1017Ser
ENST00000637337.1:n.3260A>T
ENST00000294724.8:c.3049A>T	ENSP00000294724.4:p.Thr1017Ser
ENST00000361302.7:c.3001A>T	ENSP00000354971.3:p.Thr1001Ser
ENST00000361522.4:c.2998A>T	ENSP00000354635.4:p.Thr1000Ser
ENST00000361915.7:c.3049A>T	ENSP00000355106.3:p.Thr1017Ser
ENST00000370161.6:c.3001A>T	ENSP00000359180.2:p.Thr1001Ser
ENST00000370163.7:c.3049A>T	ENSP00000359182.3:p.Thr1017Ser
ENST00000370165.7:c.3049A>T	ENSP00000359184.3:p.Thr1017Ser
NM_000028.2:c.3049A>T	NP_000019.2:p.Thr1017Ser
NM_000642.2:c.3049A>T	NP_000633.2:p.Thr1017Ser
NM_000643.2:c.3049A>T	NP_000634.2:p.Thr1017Ser
NM_000644.2:c.3049A>T	NP_000635.2:p.Thr1017Ser
NM_000645.2:c.2998A>T	NP_000636.2:p.Thr1000Ser
NM_000646.2:c.3001A>T	NP_000637.2:p.Thr1001Ser
XM_005270557.1:c.3049A>T	XP_005270614.1:p.Thr1017Ser
XM_005270557.2:c.3049A>T	XP_005270614.1:p.Thr1017Ser
XM_017000501.2:c.1309A>T	XP_016855990.1:p.Thr437Ser
NM_000642.3:c.3049A>T MANE Select	NP_000633.2:p.Thr1017Ser