Canonical Allele Identifier: CA1515641869
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177437453T= , CM000666.2:g.177437453T= GRCh38
NC_000004.11:g.178358607T= , CM000666.1:g.178358607T= GRCh37
NC_000004.10:g.178595601T= NCBI36
NG_011845.2:g.10051A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.574A= MANE Select ENSP00000264595.2:p.Ile192=
ENST00000264595.6:c.574A= ENSP00000264595.2:p.Ile192=
ENST00000502310.5:c.229A= ENSP00000423798.1:p.Ile77=
ENST00000506853.5:n.608A=
ENST00000510635.1:c.270A=
ENST00000510955.5:n.495A=
NM_000027.3:c.574A= NP_000018.2:p.Ile192=
NM_001171988.1:c.574A= NP_001165459.1:p.Ile192=
NR_033655.1:n.702A=
XM_006714123.2:c.574A= XP_006714186.1:p.Ile192=
XR_001741155.2:n.668A=
NM_000027.4:c.574A= MANE Select NP_000018.2:p.Ile192=
NM_001171988.2:c.574A= NP_001165459.1:p.Ile192=
NR_033655.2:n.636A=