Canonical Allele Identifier: CA3147134
Gene: AGA HGNC NCBI

Linked Data

dbSNP Id: rs759209473
ExAC: 4:178363629 C / T
gnomAD v2: 4-178363629-C-T
gnomAD v4: 4-177442475-C-T
MyVariant Identifiers: chr4:g.178363629C>T (hg19) chr4:g.177442475C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442475C>T , CM000666.2:g.177442475C>T GRCh38
NC_000004.11:g.178363629C>T , CM000666.1:g.178363629C>T GRCh37
NC_000004.10:g.178600623C>T NCBI36
NG_011845.2:g.5029G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.6:c.-100G>A ENSP00000264595.2:n.-100G>A
NM_000027.3:c.-100G>A NP_000018.2:n.-100G>A
NM_001171988.1:c.-100G>A NP_001165459.1:n.-100G>A
NR_033655.1:n.29G>A
XM_006714123.2:c.-100G>A XP_006714186.1:n.-100G>A
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