Canonical Allele Identifier: CA341321841

Gene: AGL

Linked Data

• gnomAD v4: 1-99884649-C-G
• MyVariant Identifiers: chr1:g.100350205C>G (hg19) ; chr1:g.99884649C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99884649C>G , CM000663.2:g.99884649C>G	GRCh38
NC_000001.10:g.100350205C>G , CM000663.1:g.100350205C>G	GRCh37
NC_000001.9:g.100122793C>G	NCBI36
NG_012865.1:g.39566C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.2627C>G MANE Select	ENSP00000355106.3:p.Ser876Cys
ENST00000637337.1:n.2838C>G
ENST00000294724.8:c.2627C>G	ENSP00000294724.4:p.Ser876Cys
ENST00000361302.7:c.2579C>G	ENSP00000354971.3:p.Ser860Cys
ENST00000361522.4:c.2576C>G	ENSP00000354635.4:p.Ser859Cys
ENST00000361915.7:c.2627C>G	ENSP00000355106.3:p.Ser876Cys
ENST00000370161.6:c.2579C>G	ENSP00000359180.2:p.Ser860Cys
ENST00000370163.7:c.2627C>G	ENSP00000359182.3:p.Ser876Cys
ENST00000370165.7:c.2627C>G	ENSP00000359184.3:p.Ser876Cys
NM_000028.2:c.2627C>G	NP_000019.2:p.Ser876Cys
NM_000642.2:c.2627C>G	NP_000633.2:p.Ser876Cys
NM_000643.2:c.2627C>G	NP_000634.2:p.Ser876Cys
NM_000644.2:c.2627C>G	NP_000635.2:p.Ser876Cys
NM_000645.2:c.2576C>G	NP_000636.2:p.Ser859Cys
NM_000646.2:c.2579C>G	NP_000637.2:p.Ser860Cys
XM_005270557.1:c.2627C>G	XP_005270614.1:p.Ser876Cys
XM_005270557.2:c.2627C>G	XP_005270614.1:p.Ser876Cys
XM_017000501.2:c.887C>G	XP_016855990.1:p.Ser296Cys
NM_000642.3:c.2627C>G MANE Select	NP_000633.2:p.Ser876Cys