Canonical Allele Identifier: CA1515645911
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177440340A= , CM000666.2:g.177440340A= GRCh38
NC_000004.11:g.178361494A= , CM000666.1:g.178361494A= GRCh37
NC_000004.10:g.178598488A= NCBI36
NG_011845.2:g.7164T=

Transcript Alleles

HGVS Amino-acid change
ENST00000264595.7:c.214T= MANE Select ENSP00000264595.2:p.Ser72=
ENST00000264595.6:c.214T= ENSP00000264595.2:p.Ser72=
ENST00000506853.5:n.248T=
ENST00000510955.5:n.248T=
ENST00000511231.1:n.248T=
NM_000027.3:c.214T= NP_000018.2:p.Ser72=
NM_001171988.1:c.214T= NP_001165459.1:p.Ser72=
NR_033655.1:n.342T=
XM_006714123.2:c.214T= XP_006714186.1:p.Ser72=
XR_001741155.2:n.308T=
NM_000027.4:c.214T= MANE Select NP_000018.2:p.Ser72=
NM_001171988.2:c.214T= NP_001165459.1:p.Ser72=
NR_033655.2:n.276T=