Canonical Allele Identifier: CA1515644689
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177439594G= , CM000666.2:g.177439594G= GRCh38
NC_000004.11:g.178360748G= , CM000666.1:g.178360748G= GRCh37
NC_000004.10:g.178597742G= NCBI36
NG_011845.2:g.7910C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.376C= MANE Select ENSP00000264595.2:p.Leu126=
ENST00000264595.6:c.376C= ENSP00000264595.2:p.Leu126=
ENST00000502310.5:c.31C= ENSP00000423798.1:p.Leu11=
ENST00000506853.5:n.410C=
ENST00000510635.1:c.72C=
ENST00000510955.5:n.315+679C=
NM_000027.3:c.376C= NP_000018.2:p.Leu126=
NM_001171988.1:c.376C= NP_001165459.1:p.Leu126=
NR_033655.1:n.504C=
XM_006714123.2:c.376C= XP_006714186.1:p.Leu126=
XR_001741155.2:n.470C=
NM_000027.4:c.376C= MANE Select NP_000018.2:p.Leu126=
NM_001171988.2:c.376C= NP_001165459.1:p.Leu126=
NR_033655.2:n.438C=