Canonical Allele Identifier: CA1515641998
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177437512A= , CM000666.2:g.177437512A= GRCh38
NC_000004.11:g.178358666A= , CM000666.1:g.178358666A= GRCh37
NC_000004.10:g.178595660A= NCBI36
NG_011845.2:g.9992T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.515T= MANE Select ENSP00000264595.2:p.Ile172=
ENST00000264595.6:c.515T= ENSP00000264595.2:p.Ile172=
ENST00000502310.5:c.170T= ENSP00000423798.1:p.Ile57=
ENST00000506853.5:n.549T=
ENST00000510635.1:c.211T=
ENST00000510955.5:n.436T=
NM_000027.3:c.515T= NP_000018.2:p.Ile172=
NM_001171988.1:c.515T= NP_001165459.1:p.Ile172=
NR_033655.1:n.643T=
XM_006714123.2:c.515T= XP_006714186.1:p.Ile172=
XR_001741155.2:n.609T=
NM_000027.4:c.515T= MANE Select NP_000018.2:p.Ile172=
NM_001171988.2:c.515T= NP_001165459.1:p.Ile172=
NR_033655.2:n.577T=