Canonical Allele Identifier: CA3146806
Gene: AGA HGNC NCBI

Linked Data

ClinVar Variation Id: 991946
ClinVar RCV Id: RCV001280247
dbSNP Id: rs369967348
ExAC: 4:178355550 C / T
gnomAD v2: 4-178355550-C-T
gnomAD v3: 4-177434396-C-T
gnomAD v4: 4-177434396-C-T
MyVariant Identifiers: chr4:g.178355550C>T (hg19) chr4:g.177434396C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177434396C>T , CM000666.2:g.177434396C>T GRCh38
NC_000004.11:g.178355550C>T , CM000666.1:g.178355550C>T GRCh37
NC_000004.10:g.178592544C>T NCBI36
NG_011845.2:g.13108G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.792G>A MANE Select ENSP00000264595.2:p.Met264Ile
ENST00000264595.6:c.792G>A ENSP00000264595.2:p.Met264Ile
ENST00000502310.5:c.363G>A ENSP00000423798.1:p.Met121Ile
ENST00000506853.5:n.750G>A
NM_000027.3:c.792G>A NP_000018.2:p.Met264Ile
NM_001171988.1:c.762G>A NP_001165459.1:p.Met254Ile
NR_033655.1:n.844G>A
XM_006714123.2:c.*86G>A XP_006714186.1:n.*86G>A
XR_001741155.2:n.864G>A
NM_000027.4:c.792G>A MANE Select NP_000018.2:p.Met264Ile
NM_001171988.2:c.762G>A NP_001165459.1:p.Met254Ile
NR_033655.2:n.778G>A
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