Canonical Allele Identifier: CA2672748632
Gene: AGA HGNC NCBI

Linked Data

gnomAD v4: 4-177442498-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442498G>C , CM000666.2:g.177442498G>C GRCh38
NC_000004.11:g.178363652G>C , CM000666.1:g.178363652G>C GRCh37
NC_000004.10:g.178600646G>C NCBI36
NG_011845.2:g.5006C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.6:c.-123C>G ENSP00000264595.2:n.-123C>G
NM_000027.3:c.-123C>G NP_000018.2:n.-123C>G
NM_001171988.1:c.-123C>G NP_001165459.1:n.-123C>G
NR_033655.1:n.6C>G
XM_006714123.2:c.-123C>G XP_006714186.1:n.-123C>G
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