Canonical Allele Identifier: CA144023
Gene: AGA HGNC NCBI

Linked Data

ClinVar Variation Id: 55947
dbSNP Id: rs386833428

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177438813A>G , CM000666.2:g.177438813A>G GRCh38
NC_000004.11:g.178359967A>G , CM000666.1:g.178359967A>G GRCh37
NC_000004.10:g.178596961A>G NCBI36
NG_011845.2:g.8691T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264595.7:c.439T>C MANE Select ENSP00000264595.2:p.Ser147Pro
ENST00000264595.6:c.439T>C ENSP00000264595.2:p.Ser147Pro
ENST00000502310.5:c.94T>C ENSP00000423798.1:p.Ser32Pro
ENST00000506853.5:n.473T>C
ENST00000510635.1:c.135T>C
ENST00000510955.5:n.360T>C
NM_000027.3:c.439T>C NP_000018.2:p.Ser147Pro
NM_001171988.1:c.439T>C NP_001165459.1:p.Ser147Pro
NR_033655.1:n.567T>C
XM_006714123.2:c.439T>C XP_006714186.1:p.Ser147Pro
XR_001741155.2:n.533T>C
NM_000027.4:c.439T>C MANE Select NP_000018.2:p.Ser147Pro
NM_001171988.2:c.439T>C NP_001165459.1:p.Ser147Pro
NR_033655.2:n.501T>C