Canonical Allele Identifier: CA358784984
Gene: AGA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442252C>A , CM000666.2:g.177442252C>A GRCh38
NC_000004.11:g.178363406C>A , CM000666.1:g.178363406C>A GRCh37
NC_000004.10:g.178600400C>A NCBI36
NG_011845.2:g.5252G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.124G>T MANE Select ENSP00000264595.2:p.Ala42Ser
ENST00000264595.6:c.124G>T ENSP00000264595.2:p.Ala42Ser
ENST00000506853.5:n.158G>T
ENST00000510955.5:n.158G>T
ENST00000511231.1:n.158G>T
NM_000027.3:c.124G>T NP_000018.2:p.Ala42Ser
NM_001171988.1:c.124G>T NP_001165459.1:p.Ala42Ser
NR_033655.1:n.252G>T
XM_006714123.2:c.124G>T XP_006714186.1:p.Ala42Ser
XR_001741155.2:n.218G>T
NM_000027.4:c.124G>T MANE Select NP_000018.2:p.Ala42Ser
NM_001171988.2:c.124G>T NP_001165459.1:p.Ala42Ser
NR_033655.2:n.186G>T