Canonical Allele Identifier: CA3147111
Gene: AGA HGNC NCBI

Linked Data

dbSNP Id: rs577874830
ExAC: 4:178363581 G / T
gnomAD v2: 4-178363581-G-T
gnomAD v3: 4-177442427-G-T
gnomAD v4: 4-177442427-G-T
MyVariant Identifiers: chr4:g.178363581G>T (hg19) chr4:g.177442427G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442427G>T , CM000666.2:g.177442427G>T GRCh38
NC_000004.11:g.178363581G>T , CM000666.1:g.178363581G>T GRCh37
NC_000004.10:g.178600575G>T NCBI36
NG_011845.2:g.5077C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.-52C>A MANE Select ENSP00000264595.2:n.-52C>A
ENST00000264595.6:c.-52C>A ENSP00000264595.2:n.-52C>A
NM_000027.3:c.-52C>A NP_000018.2:n.-52C>A
NM_001171988.1:c.-52C>A NP_001165459.1:n.-52C>A
NR_033655.1:n.77C>A
XM_006714123.2:c.-52C>A XP_006714186.1:n.-52C>A
XR_001741155.2:n.43C>A
NM_000027.4:c.-52C>A MANE Select NP_000018.2:n.-52C>A
NM_001171988.2:c.-52C>A NP_001165459.1:n.-52C>A
NR_033655.2:n.11C>A
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