Canonical Allele Identifier: CA2606722909
Gene: AGA HGNC NCBI

Linked Data

dbSNP Id: rs2111029056
gnomAD v3: 4-177442438-A-T
gnomAD v4: 4-177442438-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442438A>T , CM000666.2:g.177442438A>T GRCh38
NC_000004.11:g.178363592A>T , CM000666.1:g.178363592A>T GRCh37
NC_000004.10:g.178600586A>T NCBI36
NG_011845.2:g.5066T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.6:c.-63T>A ENSP00000264595.2:n.-63T>A
NM_000027.3:c.-63T>A NP_000018.2:n.-63T>A
NM_001171988.1:c.-63T>A NP_001165459.1:n.-63T>A
NR_033655.1:n.66T>A
XM_006714123.2:c.-63T>A XP_006714186.1:n.-63T>A
XR_001741155.2:n.32T>A
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