Canonical Allele Identifier: CA1515644782
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177439628C= , CM000666.2:g.177439628C= GRCh38
NC_000004.11:g.178360782C= , CM000666.1:g.178360782C= GRCh37
NC_000004.10:g.178597776C= NCBI36
NG_011845.2:g.7876G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.342G= MANE Select ENSP00000264595.2:p.Val114=
ENST00000264595.6:c.342G= ENSP00000264595.2:p.Val114=
ENST00000506853.5:n.376G=
ENST00000510635.1:c.38G=
ENST00000510955.5:n.315+645G=
NM_000027.3:c.342G= NP_000018.2:p.Val114=
NM_001171988.1:c.342G= NP_001165459.1:p.Val114=
NR_033655.1:n.470G=
XM_006714123.2:c.342G= XP_006714186.1:p.Val114=
XR_001741155.2:n.436G=
NM_000027.4:c.342G= MANE Select NP_000018.2:p.Val114=
NM_001171988.2:c.342G= NP_001165459.1:p.Val114=
NR_033655.2:n.404G=