Canonical Allele Identifier: CA442333160
Gene: AGA HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.178363452A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442298A>C , CM000666.2:g.177442298A>C GRCh38
NC_000004.11:g.178363452A>C , CM000666.1:g.178363452A>C GRCh37
NC_000004.10:g.178600446A>C NCBI36
NG_011845.2:g.5206T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.78T>G MANE Select ENSP00000264595.2:p.Pro26=
ENST00000264595.6:c.78T>G ENSP00000264595.2:p.Pro26=
ENST00000506853.5:n.112T>G
ENST00000510955.5:n.112T>G
ENST00000511231.1:n.112T>G
NM_000027.3:c.78T>G NP_000018.2:p.Pro26=
NM_001171988.1:c.78T>G NP_001165459.1:p.Pro26=
NR_033655.1:n.206T>G
XM_006714123.2:c.78T>G XP_006714186.1:p.Pro26=
XR_001741155.2:n.172T>G
NM_000027.4:c.78T>G MANE Select NP_000018.2:p.Pro26=
NM_001171988.2:c.78T>G NP_001165459.1:p.Pro26=
NR_033655.2:n.140T>G