Canonical Allele Identifier: CA341319525

Gene: AGL

Linked Data

• MyVariant Identifiers: chr1:g.100347003G>T (hg19) ; chr1:g.99881447G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99881447G>T , CM000663.2:g.99881447G>T	GRCh38
NC_000001.10:g.100347003G>T , CM000663.1:g.100347003G>T	GRCh37
NC_000001.9:g.100119591G>T	NCBI36
NG_012865.1:g.36364G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.2157G>T MANE Select	ENSP00000355106.3:p.Gln719His
ENST00000637337.1:n.2368G>T
ENST00000294724.8:c.2157G>T	ENSP00000294724.4:p.Gln719His
ENST00000361302.7:c.2109G>T	ENSP00000354971.3:p.Gln703His
ENST00000361522.4:c.2106G>T	ENSP00000354635.4:p.Gln702His
ENST00000361915.7:c.2157G>T	ENSP00000355106.3:p.Gln719His
ENST00000370161.6:c.2109G>T	ENSP00000359180.2:p.Gln703His
ENST00000370163.7:c.2157G>T	ENSP00000359182.3:p.Gln719His
ENST00000370165.7:c.2157G>T	ENSP00000359184.3:p.Gln719His
NM_000028.2:c.2157G>T	NP_000019.2:p.Gln719His
NM_000642.2:c.2157G>T	NP_000633.2:p.Gln719His
NM_000643.2:c.2157G>T	NP_000634.2:p.Gln719His
NM_000644.2:c.2157G>T	NP_000635.2:p.Gln719His
NM_000645.2:c.2106G>T	NP_000636.2:p.Gln702His
NM_000646.2:c.2109G>T	NP_000637.2:p.Gln703His
XM_005270557.1:c.2157G>T	XP_005270614.1:p.Gln719His
XM_005270557.2:c.2157G>T	XP_005270614.1:p.Gln719His
XM_017000501.2:c.417G>T	XP_016855990.1:p.Gln139His
NM_000642.3:c.2157G>T MANE Select	NP_000633.2:p.Gln719His