Canonical Allele Identifier: CA1515643381
Gene: AGA HGNC NCBI

Linked Data

dbSNP Id: rs1736898997

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177438720T>G , CM000666.2:g.177438720T>G GRCh38
NC_000004.11:g.178359874T>G , CM000666.1:g.178359874T>G GRCh37
NC_000004.10:g.178596868T>G NCBI36
NG_011845.2:g.8784A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264595.7:c.507+25A>C MANE Select ENSP00000264595.2:n.507+25A>C
ENST00000264595.6:c.507+25A>C ENSP00000264595.2:n.507+25A>C
ENST00000502310.5:c.162+25A>C ENSP00000423798.1:n.162+25A>C
ENST00000506853.5:n.541+25A>C
ENST00000510635.1:c.203+25A>C
ENST00000510955.5:n.428+25A>C
NM_000027.3:c.507+25A>C NP_000018.2:n.507+25A>C
NM_001171988.1:c.507+25A>C NP_001165459.1:n.507+25A>C
NR_033655.1:n.635+25A>C
XM_006714123.2:c.507+25A>C XP_006714186.1:n.507+25A>C
XR_001741155.2:n.601+25A>C
NM_000027.4:c.507+25A>C MANE Select NP_000018.2:n.507+25A>C
NM_001171988.2:c.507+25A>C NP_001165459.1:n.507+25A>C
NR_033655.2:n.569+25A>C