Canonical Allele Identifier: CA16043498

Gene: AAGAB

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67235978C>A , CM000677.2:g.67235978C>A	GRCh38
NC_000015.9:g.67528316C>A , CM000677.1:g.67528316C>A	GRCh37
NC_000015.8:g.65315370C>A	NCBI36
NG_033007.1:g.24221G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261880.10:c.451+1G>T MANE Select	ENSP00000261880.5:n.451+1G>T
ENST00000261880.9:c.451+1G>T	ENSP00000261880.5:n.451+1G>T
ENST00000542650.5:c.124+1G>T	ENSP00000440735.1:n.124+1G>T
ENST00000558725.5:n.474+1G>T
ENST00000560362.1:c.124+1G>T	ENSP00000453059.1:n.124+1G>T
ENST00000561452.5:c.124+1G>T	ENSP00000453263.1:n.124+1G>T
NM_001271885.1:c.124+1G>T	NP_001258814.1:n.124+1G>T
NM_001271886.1:c.124+1G>T	NP_001258815.1:n.124+1G>T
NM_024666.4:c.451+1G>T	NP_078942.3:n.451+1G>T
XM_005254664.2:c.451+1G>T	XP_005254721.1:n.451+1G>T
XM_006720683.2:c.451+1G>T	XP_006720746.1:n.451+1G>T
XM_011522020.1:c.124+1G>T	XP_011520322.1:n.124+1G>T
XM_024450052.1:c.451+1G>T	XP_024305820.1:n.451+1G>T
XM_024450053.1:c.451+1G>T	XP_024305821.1:n.451+1G>T
NM_024666.5:c.451+1G>T MANE Select	NP_078942.3:n.451+1G>T
NM_001271885.2:c.124+1G>T	NP_001258814.1:n.124+1G>T
NM_001271886.2:c.124+1G>T	NP_001258815.1:n.124+1G>T