Canonical Allele Identifier: CA341317079

Gene: AGL

Linked Data

• ClinVar Variation Id: 2129906
• ClinVar RCV Id: RCV003050235
• MyVariant Identifiers: chr1:g.100346334A>C (hg19) ; chr1:g.99880778A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99880778A>C , CM000663.2:g.99880778A>C	GRCh38
NC_000001.10:g.100346334A>C , CM000663.1:g.100346334A>C	GRCh37
NC_000001.9:g.100118922A>C	NCBI36
NG_012865.1:g.35695A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.1882A>C MANE Select	ENSP00000355106.3:p.Asn628His
ENST00000637337.1:n.2093A>C
ENST00000294724.8:c.1882A>C	ENSP00000294724.4:p.Asn628His
ENST00000361302.7:c.1834A>C	ENSP00000354971.3:p.Asn612His
ENST00000361522.4:c.1831A>C	ENSP00000354635.4:p.Asn611His
ENST00000361915.7:c.1882A>C	ENSP00000355106.3:p.Asn628His
ENST00000370161.6:c.1834A>C	ENSP00000359180.2:p.Asn612His
ENST00000370163.7:c.1882A>C	ENSP00000359182.3:p.Asn628His
ENST00000370165.7:c.1882A>C	ENSP00000359184.3:p.Asn628His
NM_000028.2:c.1882A>C	NP_000019.2:p.Asn628His
NM_000642.2:c.1882A>C	NP_000633.2:p.Asn628His
NM_000643.2:c.1882A>C	NP_000634.2:p.Asn628His
NM_000644.2:c.1882A>C	NP_000635.2:p.Asn628His
NM_000645.2:c.1831A>C	NP_000636.2:p.Asn611His
NM_000646.2:c.1834A>C	NP_000637.2:p.Asn612His
XM_005270557.1:c.1882A>C	XP_005270614.1:p.Asn628His
XM_005270557.2:c.1882A>C	XP_005270614.1:p.Asn628His
XM_017000501.2:c.142A>C	XP_016855990.1:p.Asn48His
NM_000642.3:c.1882A>C MANE Select	NP_000633.2:p.Asn628His