Canonical Allele Identifier: CA3146895
Gene: AGA HGNC NCBI

Linked Data

ClinVar Variation Id: 558964
ClinVar RCV Id: RCV000675817 RCV001559242
dbSNP Id: rs745924498
ExAC: 4:178358666 A / G
gnomAD v2: 4-178358666-A-G
gnomAD v3: 4-177437512-A-G
gnomAD v4: 4-177437512-A-G
MyVariant Identifiers: chr4:g.178358666A>G (hg19) chr4:g.177437512A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177437512A>G , CM000666.2:g.177437512A>G GRCh38
NC_000004.11:g.178358666A>G , CM000666.1:g.178358666A>G GRCh37
NC_000004.10:g.178595660A>G NCBI36
NG_011845.2:g.9992T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.515T>C MANE Select ENSP00000264595.2:p.Ile172Thr
ENST00000264595.6:c.515T>C ENSP00000264595.2:p.Ile172Thr
ENST00000502310.5:c.170T>C ENSP00000423798.1:p.Ile57Thr
ENST00000506853.5:n.549T>C
ENST00000510635.1:c.211T>C
ENST00000510955.5:n.436T>C
NM_000027.3:c.515T>C NP_000018.2:p.Ile172Thr
NM_001171988.1:c.515T>C NP_001165459.1:p.Ile172Thr
NR_033655.1:n.643T>C
XM_006714123.2:c.515T>C XP_006714186.1:p.Ile172Thr
XR_001741155.2:n.609T>C
NM_000027.4:c.515T>C MANE Select NP_000018.2:p.Ile172Thr
NM_001171988.2:c.515T>C NP_001165459.1:p.Ile172Thr
NR_033655.2:n.577T>C
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