Canonical Allele Identifier: CA966005

Gene: AGL

Linked Data

• ClinVar Variation Id: 860664
• ClinVar RCV Id: RCV001067011
• dbSNP Id: rs772905291
• ExAC: 1:100316669 G / C
• gnomAD v2: 1-100316669-G-C
• gnomAD v4: 1-99851113-G-C
• MyVariant Identifiers: chr1:g.100316669G>C (hg19) ; chr1:g.99851113G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99851113G>C , CM000663.2:g.99851113G>C	GRCh38
NC_000001.10:g.100316669G>C , CM000663.1:g.100316669G>C	GRCh37
NC_000001.9:g.100089257G>C	NCBI36
NG_012865.1:g.6030G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361915.8:c.71G>C MANE Select	ENSP00000355106.3:p.Arg24Thr
ENST00000294724.8:c.71G>C	ENSP00000294724.4:p.Arg24Thr
ENST00000361302.7:c.-121G>C	ENSP00000354971.3:n.-121G>C
ENST00000361915.7:c.71G>C	ENSP00000355106.3:p.Arg24Thr
ENST00000370163.7:c.71G>C	ENSP00000359182.3:p.Arg24Thr
ENST00000370165.7:c.71G>C	ENSP00000359184.3:p.Arg24Thr
NM_000028.2:c.71G>C	NP_000019.2:p.Arg24Thr
NM_000642.2:c.71G>C	NP_000633.2:p.Arg24Thr
NM_000643.2:c.71G>C	NP_000634.2:p.Arg24Thr
NM_000644.2:c.71G>C	NP_000635.2:p.Arg24Thr
NM_000646.2:c.-121G>C	NP_000637.2:n.-121G>C
XM_005270557.1:c.71G>C	XP_005270614.1:p.Arg24Thr
XM_005270557.2:c.71G>C	XP_005270614.1:p.Arg24Thr
NM_000642.3:c.71G>C MANE Select	NP_000633.2:p.Arg24Thr