Canonical Allele Identifier: CA442333227
Gene: AGA HGNC NCBI

Linked Data

ClinVar Variation Id: 1608941
ClinVar RCV Id: RCV002155122
dbSNP Id: rs764924616
gnomAD v3: 4-177442349-C-G
gnomAD v4: 4-177442349-C-G
MyVariant Identifiers: chr4:g.178363503C>G (hg19) chr4:g.177442349C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442349C>G , CM000666.2:g.177442349C>G GRCh38
NC_000004.11:g.178363503C>G , CM000666.1:g.178363503C>G GRCh37
NC_000004.10:g.178600497C>G NCBI36
NG_011845.2:g.5155G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.27G>C MANE Select ENSP00000264595.2:p.Val9=
ENST00000264595.6:c.27G>C ENSP00000264595.2:p.Val9=
ENST00000506853.5:n.61G>C
ENST00000510955.5:n.61G>C
ENST00000511231.1:n.61G>C
NM_000027.3:c.27G>C NP_000018.2:p.Val9=
NM_001171988.1:c.27G>C NP_001165459.1:p.Val9=
NR_033655.1:n.155G>C
XM_006714123.2:c.27G>C XP_006714186.1:p.Val9=
XR_001741155.2:n.121G>C
NM_000027.4:c.27G>C MANE Select NP_000018.2:p.Val9=
NM_001171988.2:c.27G>C NP_001165459.1:p.Val9=
NR_033655.2:n.89G>C
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