Canonical Allele Identifier: CA2764653742
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177437550C>T , CM000666.2:g.177437550C>T GRCh38
NC_000004.11:g.178358704C>T , CM000666.1:g.178358704C>T GRCh37
NC_000004.10:g.178595698C>T NCBI36
NG_011845.2:g.9954G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.508-31G>A MANE Select ENSP00000264595.2:n.508-31G>A
ENST00000264595.6:c.508-31G>A ENSP00000264595.2:n.508-31G>A
ENST00000502310.5:c.163-31G>A ENSP00000423798.1:n.163-31G>A
ENST00000506853.5:n.542-31G>A
ENST00000510635.1:c.204-31G>A
ENST00000510955.5:n.429-31G>A
NM_000027.3:c.508-31G>A NP_000018.2:n.508-31G>A
NM_001171988.1:c.508-31G>A NP_001165459.1:n.508-31G>A
NR_033655.1:n.636-31G>A
XM_006714123.2:c.508-31G>A XP_006714186.1:n.508-31G>A
XR_001741155.2:n.602-31G>A
NM_000027.4:c.508-31G>A MANE Select NP_000018.2:n.508-31G>A
NM_001171988.2:c.508-31G>A NP_001165459.1:n.508-31G>A
NR_033655.2:n.570-31G>A