Canonical Allele Identifier: CA341323824

Gene: AGL

Linked Data

• dbSNP Id: rs1342547734
• gnomAD v2: 1-100316666-T-G
• gnomAD v4: 1-99851110-T-G
• MyVariant Identifiers: chr1:g.100316666T>G (hg19) ; chr1:g.99851110T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99851110T>G , CM000663.2:g.99851110T>G	GRCh38
NC_000001.10:g.100316666T>G , CM000663.1:g.100316666T>G	GRCh37
NC_000001.9:g.100089254T>G	NCBI36
NG_012865.1:g.6027T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361915.8:c.68T>G MANE Select	ENSP00000355106.3:p.Phe23Cys
ENST00000294724.8:c.68T>G	ENSP00000294724.4:p.Phe23Cys
ENST00000361302.7:c.-124T>G	ENSP00000354971.3:n.-124T>G
ENST00000361915.7:c.68T>G	ENSP00000355106.3:p.Phe23Cys
ENST00000370163.7:c.68T>G	ENSP00000359182.3:p.Phe23Cys
ENST00000370165.7:c.68T>G	ENSP00000359184.3:p.Phe23Cys
NM_000028.2:c.68T>G	NP_000019.2:p.Phe23Cys
NM_000642.2:c.68T>G	NP_000633.2:p.Phe23Cys
NM_000643.2:c.68T>G	NP_000634.2:p.Phe23Cys
NM_000644.2:c.68T>G	NP_000635.2:p.Phe23Cys
NM_000646.2:c.-124T>G	NP_000637.2:n.-124T>G
XM_005270557.1:c.68T>G	XP_005270614.1:p.Phe23Cys
XM_005270557.2:c.68T>G	XP_005270614.1:p.Phe23Cys
NM_000642.3:c.68T>G MANE Select	NP_000633.2:p.Phe23Cys