Canonical Allele Identifier: CA1515637726
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177434471T= , CM000666.2:g.177434471T= GRCh38
NC_000004.11:g.178355625T= , CM000666.1:g.178355625T= GRCh37
NC_000004.10:g.178592619T= NCBI36
NG_011845.2:g.13033A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.717A= MANE Select ENSP00000264595.2:p.Pro239=
ENST00000264595.6:c.717A= ENSP00000264595.2:p.Pro239=
ENST00000502310.5:c.288A= ENSP00000423798.1:p.Pro96=
ENST00000506853.5:n.675A=
ENST00000510635.1:c.383A=
NM_000027.3:c.717A= NP_000018.2:p.Pro239=
NM_001171988.1:c.687A= NP_001165459.1:p.Pro229=
NR_033655.1:n.769A=
XM_006714123.2:c.*11A= XP_006714186.1:n.*11A=
XR_001741155.2:n.789A=
NM_000027.4:c.717A= MANE Select NP_000018.2:p.Pro239=
NM_001171988.2:c.687A= NP_001165459.1:p.Pro229=
NR_033655.2:n.703A=