Canonical Allele Identifier: CA16040833
Gene: AGL HGNC NCBI

Linked Data

ClinVar Variation Id: 370710
ClinVar RCV Id: RCV000411342
dbSNP Id: rs1057516708
MyVariant Identifiers: chr1:g.100346735T>C (hg19) chr1:g.99881179T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99881179T>C , CM000663.2:g.99881179T>C GRCh38
NC_000001.10:g.100346735T>C , CM000663.1:g.100346735T>C GRCh37
NC_000001.9:g.100119323T>C NCBI36
NG_012865.1:g.36096T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000361915.8:c.2001+2T>C MANE Select ENSP00000355106.3:n.2001+2T>C
ENST00000637337.1:n.2212+2T>C
ENST00000294724.8:c.2001+2T>C ENSP00000294724.4:n.2001+2T>C
ENST00000361302.7:c.1953+2T>C ENSP00000354971.3:n.1953+2T>C
ENST00000361522.4:c.1950+2T>C ENSP00000354635.4:n.1950+2T>C
ENST00000361915.7:c.2001+2T>C ENSP00000355106.3:n.2001+2T>C
ENST00000370161.6:c.1953+2T>C ENSP00000359180.2:n.1953+2T>C
ENST00000370163.7:c.2001+2T>C ENSP00000359182.3:n.2001+2T>C
ENST00000370165.7:c.2001+2T>C ENSP00000359184.3:n.2001+2T>C
NM_000028.2:c.2001+2T>C NP_000019.2:n.2001+2T>C
NM_000642.2:c.2001+2T>C NP_000633.2:n.2001+2T>C
NM_000643.2:c.2001+2T>C NP_000634.2:n.2001+2T>C
NM_000644.2:c.2001+2T>C NP_000635.2:n.2001+2T>C
NM_000645.2:c.1950+2T>C NP_000636.2:n.1950+2T>C
NM_000646.2:c.1953+2T>C NP_000637.2:n.1953+2T>C
XM_005270557.1:c.2001+2T>C XP_005270614.1:n.2001+2T>C
XM_005270557.2:c.2001+2T>C XP_005270614.1:n.2001+2T>C
XM_017000501.2:c.261+2T>C XP_016855990.1:n.261+2T>C
NM_000642.3:c.2001+2T>C MANE Select NP_000633.2:n.2001+2T>C
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