Canonical Allele Identifier: CA2578238598
Gene: AGA HGNC NCBI

Linked Data

gnomAD v4: 4-177442430-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442430G>T , CM000666.2:g.177442430G>T GRCh38
NC_000004.11:g.178363584G>T , CM000666.1:g.178363584G>T GRCh37
NC_000004.10:g.178600578G>T NCBI36
NG_011845.2:g.5074C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264595.7:c.-55C>A MANE Select ENSP00000264595.2:n.-55C>A
ENST00000264595.6:c.-55C>A ENSP00000264595.2:n.-55C>A
NM_000027.3:c.-55C>A NP_000018.2:n.-55C>A
NM_001171988.1:c.-55C>A NP_001165459.1:n.-55C>A
NR_033655.1:n.74C>A
XM_006714123.2:c.-55C>A XP_006714186.1:n.-55C>A
XR_001741155.2:n.40C>A
NM_000027.4:c.-55C>A MANE Select NP_000018.2:n.-55C>A
NM_001171988.2:c.-55C>A NP_001165459.1:n.-55C>A
NR_033655.2:n.8C>A
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