Canonical Allele Identifier: CA1515637342
Gene: AGA HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177434319A= , CM000666.2:g.177434319A= GRCh38
NC_000004.11:g.178355473A= , CM000666.1:g.178355473A= GRCh37
NC_000004.10:g.178592467A= NCBI36
NG_011845.2:g.13185T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.806+63T= MANE Select ENSP00000264595.2:n.806+63T=
ENST00000264595.6:c.806+63T= ENSP00000264595.2:n.806+63T=
ENST00000502310.5:c.377+63T= ENSP00000423798.1:n.377+63T=
NM_000027.3:c.806+63T= NP_000018.2:n.806+63T=
NM_001171988.1:c.776+63T= NP_001165459.1:n.776+63T=
NR_033655.1:n.858+63T=
XR_001741155.2:n.878+63T=
NM_000027.4:c.806+63T= MANE Select NP_000018.2:n.806+63T=
NM_001171988.2:c.776+63T= NP_001165459.1:n.776+63T=
NR_033655.2:n.792+63T=
Search 100 bp 5'
Search 100 bp 3'