Canonical Allele Identifier: CA966607
Gene: AGL HGNC NCBI

Linked Data

ClinVar Variation Id: 968776
ClinVar RCV Id: RCV001243989
dbSNP Id: rs145517369
gnomAD v3: 1-99880760-A-C
gnomAD v4: 1-99880760-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.99880760A>C , CM000663.2:g.99880760A>C GRCh38
NC_000001.10:g.100346316A>C , CM000663.1:g.100346316A>C GRCh37
NC_000001.9:g.100118904A>C NCBI36
NG_012865.1:g.35677A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361915.8:c.1864A>C MANE Select ENSP00000355106.3:p.Met622Leu
ENST00000637337.1:n.2075A>C
ENST00000294724.8:c.1864A>C ENSP00000294724.4:p.Met622Leu
ENST00000361302.7:c.1816A>C ENSP00000354971.3:p.Met606Leu
ENST00000361522.4:c.1813A>C ENSP00000354635.4:p.Met605Leu
ENST00000361915.7:c.1864A>C ENSP00000355106.3:p.Met622Leu
ENST00000370161.6:c.1816A>C ENSP00000359180.2:p.Met606Leu
ENST00000370163.7:c.1864A>C ENSP00000359182.3:p.Met622Leu
ENST00000370165.7:c.1864A>C ENSP00000359184.3:p.Met622Leu
NM_000028.2:c.1864A>C NP_000019.2:p.Met622Leu
NM_000642.2:c.1864A>C NP_000633.2:p.Met622Leu
NM_000643.2:c.1864A>C NP_000634.2:p.Met622Leu
NM_000644.2:c.1864A>C NP_000635.2:p.Met622Leu
NM_000645.2:c.1813A>C NP_000636.2:p.Met605Leu
NM_000646.2:c.1816A>C NP_000637.2:p.Met606Leu
XM_005270557.1:c.1864A>C XP_005270614.1:p.Met622Leu
XM_005270557.2:c.1864A>C XP_005270614.1:p.Met622Leu
XM_017000501.2:c.124A>C XP_016855990.1:p.Met42Leu
NM_000642.3:c.1864A>C MANE Select NP_000633.2:p.Met622Leu