Canonical Allele Identifier: CA966255

Gene: AGL

Linked Data

• dbSNP Id: rs747405415
• ExAC: 1:100336030 G / T
• gnomAD v2: 1-100336030-G-T
• MyVariant Identifiers: chr1:g.100336030G>T (hg19) ; chr1:g.99870474G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99870474G>T , CM000663.2:g.99870474G>T	GRCh38
NC_000001.10:g.100336030G>T , CM000663.1:g.100336030G>T	GRCh37
NC_000001.9:g.100108618G>T	NCBI36
NG_012865.1:g.25391G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.739G>T MANE Select	ENSP00000355106.3:p.Ala247Ser
ENST00000637337.1:n.950G>T
ENST00000294724.8:c.739G>T	ENSP00000294724.4:p.Ala247Ser
ENST00000361302.7:c.691G>T	ENSP00000354971.3:p.Ala231Ser
ENST00000361522.4:c.688G>T	ENSP00000354635.4:p.Ala230Ser
ENST00000361915.7:c.739G>T	ENSP00000355106.3:p.Ala247Ser
ENST00000370161.6:c.691G>T	ENSP00000359180.2:p.Ala231Ser
ENST00000370163.7:c.739G>T	ENSP00000359182.3:p.Ala247Ser
ENST00000370165.7:c.739G>T	ENSP00000359184.3:p.Ala247Ser
NM_000028.2:c.739G>T	NP_000019.2:p.Ala247Ser
NM_000642.2:c.739G>T	NP_000633.2:p.Ala247Ser
NM_000643.2:c.739G>T	NP_000634.2:p.Ala247Ser
NM_000644.2:c.739G>T	NP_000635.2:p.Ala247Ser
NM_000645.2:c.688G>T	NP_000636.2:p.Ala230Ser
NM_000646.2:c.691G>T	NP_000637.2:p.Ala231Ser
XM_005270557.1:c.739G>T	XP_005270614.1:p.Ala247Ser
XM_005270557.2:c.739G>T	XP_005270614.1:p.Ala247Ser
NM_000642.3:c.739G>T MANE Select	NP_000633.2:p.Ala247Ser