Canonical Allele Identifier: CA442333134
Gene: AGA HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.178363434G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442280G>A , CM000666.2:g.177442280G>A GRCh38
NC_000004.11:g.178363434G>A , CM000666.1:g.178363434G>A GRCh37
NC_000004.10:g.178600428G>A NCBI36
NG_011845.2:g.5224C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264595.7:c.96C>T MANE Select ENSP00000264595.2:p.Asn32=
ENST00000264595.6:c.96C>T ENSP00000264595.2:p.Asn32=
ENST00000506853.5:n.130C>T
ENST00000510955.5:n.130C>T
ENST00000511231.1:n.130C>T
NM_000027.3:c.96C>T NP_000018.2:p.Asn32=
NM_001171988.1:c.96C>T NP_001165459.1:p.Asn32=
NR_033655.1:n.224C>T
XM_006714123.2:c.96C>T XP_006714186.1:p.Asn32=
XR_001741155.2:n.190C>T
NM_000027.4:c.96C>T MANE Select NP_000018.2:p.Asn32=
NM_001171988.2:c.96C>T NP_001165459.1:p.Asn32=
NR_033655.2:n.158C>T