Canonical Allele Identifier: CA144019
Gene: AGA HGNC NCBI

Linked Data

ClinVar Variation Id: 55943
ClinVar RCV Id: RCV000049352
dbSNP Id: rs386833424

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177439597_177439601del , CM000666.2:g.177439597_177439601del GRCh38
NC_000004.11:g.178360751_178360755del , CM000666.1:g.178360751_178360755del GRCh37
NC_000004.10:g.178597745_178597749del NCBI36
NG_011845.2:g.7903_7907del

Transcript Alleles

HGVS Amino-acid change
ENST00000264595.7:c.369_373del MANE Select ENSP00000264595.2:p.His124ThrfsTer19
ENST00000264595.6:c.369_373del ENSP00000264595.2:p.His124ThrfsTer19
ENST00000502310.5:c.24_28del ENSP00000423798.1:p.His9ThrfsTer19
ENST00000506853.5:n.403_407del
ENST00000510635.1:c.65_69del
ENST00000510955.5:n.315+672_315+676del
NM_000027.3:c.369_373del NP_000018.2:p.His124ThrfsTer19
NM_001171988.1:c.369_373del NP_001165459.1:p.His124ThrfsTer19
NR_033655.1:n.497_501del
XM_006714123.2:c.369_373del XP_006714186.1:p.His124ThrfsTer19
XR_001741155.2:n.463_467del
NM_000027.4:c.369_373del MANE Select NP_000018.2:p.His124ThrfsTer19
NM_001171988.2:c.369_373del NP_001165459.1:p.His124ThrfsTer19
NR_033655.2:n.431_435del