Canonical Allele Identifier: CA442332591
Gene: AGA HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.178358623A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177437469A>T , CM000666.2:g.177437469A>T GRCh38
NC_000004.11:g.178358623A>T , CM000666.1:g.178358623A>T GRCh37
NC_000004.10:g.178595617A>T NCBI36
NG_011845.2:g.10035T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.558T>A MANE Select ENSP00000264595.2:p.Gly186=
ENST00000264595.6:c.558T>A ENSP00000264595.2:p.Gly186=
ENST00000502310.5:c.213T>A ENSP00000423798.1:p.Gly71=
ENST00000506853.5:n.592T>A
ENST00000510635.1:c.254T>A
ENST00000510955.5:n.479T>A
NM_000027.3:c.558T>A NP_000018.2:p.Gly186=
NM_001171988.1:c.558T>A NP_001165459.1:p.Gly186=
NR_033655.1:n.686T>A
XM_006714123.2:c.558T>A XP_006714186.1:p.Gly186=
XR_001741155.2:n.652T>A
NM_000027.4:c.558T>A MANE Select NP_000018.2:p.Gly186=
NM_001171988.2:c.558T>A NP_001165459.1:p.Gly186=
NR_033655.2:n.620T>A