Canonical Allele Identifier: CA442332853
Gene: AGA HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.178360827T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177439673T>G , CM000666.2:g.177439673T>G GRCh38
NC_000004.11:g.178360827T>G , CM000666.1:g.178360827T>G GRCh37
NC_000004.10:g.178597821T>G NCBI36
NG_011845.2:g.7831A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.297A>C MANE Select ENSP00000264595.2:p.Val99=
ENST00000264595.6:c.297A>C ENSP00000264595.2:p.Val99=
ENST00000506853.5:n.331A>C
ENST00000510955.5:n.315+600A>C
NM_000027.3:c.297A>C NP_000018.2:p.Val99=
NM_001171988.1:c.297A>C NP_001165459.1:p.Val99=
NR_033655.1:n.425A>C
XM_006714123.2:c.297A>C XP_006714186.1:p.Val99=
XR_001741155.2:n.391A>C
NM_000027.4:c.297A>C MANE Select NP_000018.2:p.Val99=
NM_001171988.2:c.297A>C NP_001165459.1:p.Val99=
NR_033655.2:n.359A>C