Canonical Allele Identifier: CA442332846
Gene: AGA HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.178360821T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177439667T>C , CM000666.2:g.177439667T>C GRCh38
NC_000004.11:g.178360821T>C , CM000666.1:g.178360821T>C GRCh37
NC_000004.10:g.178597815T>C NCBI36
NG_011845.2:g.7837A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.303A>G MANE Select ENSP00000264595.2:p.Ala101=
ENST00000264595.6:c.303A>G ENSP00000264595.2:p.Ala101=
ENST00000506853.5:n.337A>G
ENST00000510955.5:n.315+606A>G
NM_000027.3:c.303A>G NP_000018.2:p.Ala101=
NM_001171988.1:c.303A>G NP_001165459.1:p.Ala101=
NR_033655.1:n.431A>G
XM_006714123.2:c.303A>G XP_006714186.1:p.Ala101=
XR_001741155.2:n.397A>G
NM_000027.4:c.303A>G MANE Select NP_000018.2:p.Ala101=
NM_001171988.2:c.303A>G NP_001165459.1:p.Ala101=
NR_033655.2:n.365A>G