Canonical Allele Identifier: CA3147085
Gene: AGA HGNC NCBI

Linked Data

ClinVar Variation Id: 760805
ClinVar RCV Id: RCV000938792 RCV001251881
dbSNP Id: rs149092606
ExAC: 4:178363520 T / G
gnomAD v2: 4-178363520-T-G
gnomAD v3: 4-177442366-T-G
gnomAD v4: 4-177442366-T-G
MyVariant Identifiers: chr4:g.178363520T>G (hg19) chr4:g.177442366T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442366T>G , CM000666.2:g.177442366T>G GRCh38
NC_000004.11:g.178363520T>G , CM000666.1:g.178363520T>G GRCh37
NC_000004.10:g.178600514T>G NCBI36
NG_011845.2:g.5138A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.10A>C MANE Select ENSP00000264595.2:p.Lys4Gln
ENST00000264595.6:c.10A>C ENSP00000264595.2:p.Lys4Gln
ENST00000506853.5:n.44A>C
ENST00000510955.5:n.44A>C
ENST00000511231.1:n.44A>C
NM_000027.3:c.10A>C NP_000018.2:p.Lys4Gln
NM_001171988.1:c.10A>C NP_001165459.1:p.Lys4Gln
NR_033655.1:n.138A>C
XM_006714123.2:c.10A>C XP_006714186.1:p.Lys4Gln
XR_001741155.2:n.104A>C
NM_000027.4:c.10A>C MANE Select NP_000018.2:p.Lys4Gln
NM_001171988.2:c.10A>C NP_001165459.1:p.Lys4Gln
NR_033655.2:n.72A>C
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