Canonical Allele Identifier: CA27560252
Gene: AGL HGNC NCBI

Linked Data

dbSNP Id: rs113994133
MyVariant Identifiers: chr1:g.100382143A>G (hg19) chr1:g.99916587A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99916587A>G , CM000663.2:g.99916587A>G GRCh38
NC_000001.10:g.100382143A>G , CM000663.1:g.100382143A>G GRCh37
NC_000001.9:g.100154731A>G NCBI36
NG_012865.1:g.71504A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000361915.8:c.4348-11A>G MANE Select ENSP00000355106.3:n.4348-11A>G
ENST00000637337.1:n.4559-11A>G
ENST00000294724.8:c.4348-11A>G ENSP00000294724.4:n.4348-11A>G
ENST00000361302.7:c.4300-11A>G ENSP00000354971.3:n.4300-11A>G
ENST00000361522.4:c.4297-11A>G ENSP00000354635.4:n.4297-11A>G
ENST00000361915.7:c.4348-11A>G ENSP00000355106.3:n.4348-11A>G
ENST00000370161.6:c.4300-11A>G ENSP00000359180.2:n.4300-11A>G
ENST00000370163.7:c.4348-11A>G ENSP00000359182.3:n.4348-11A>G
ENST00000370165.7:c.4348-11A>G ENSP00000359184.3:n.4348-11A>G
NM_000028.2:c.4348-11A>G NP_000019.2:n.4348-11A>G
NM_000642.2:c.4348-11A>G NP_000633.2:n.4348-11A>G
NM_000643.2:c.4348-11A>G NP_000634.2:n.4348-11A>G
NM_000644.2:c.4348-11A>G NP_000635.2:n.4348-11A>G
NM_000645.2:c.4297-11A>G NP_000636.2:n.4297-11A>G
NM_000646.2:c.4300-11A>G NP_000637.2:n.4300-11A>G
XM_005270557.1:c.4348-11A>G XP_005270614.1:n.4348-11A>G
XR_947626.1:n.1318-3370T>C
XR_947627.1:n.1207-3370T>C
XR_947628.1:n.1312-3370T>C
XR_947630.1:n.1250-3370T>C
XR_947632.1:n.1136-3370T>C
XR_947633.1:n.1247-3370T>C
XR_947634.1:n.661-3370T>C
XR_947635.1:n.729-3370T>C
XM_005270557.2:c.4348-11A>G XP_005270614.1:n.4348-11A>G
XM_017000501.2:c.2608-11A>G XP_016855990.1:n.2608-11A>G
NM_000642.3:c.4348-11A>G MANE Select NP_000633.2:n.4348-11A>G
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