Canonical Allele Identifier: CA199105
Gene: AGA HGNC NCBI

Linked Data

ClinVar Variation Id: 188964
ClinVar RCV Id: RCV000169339 RCV000675822
dbSNP Id: rs74626221
ExAC: 4:178363496 C / A
gnomAD v2: 4-178363496-C-A
gnomAD v3: 4-177442342-C-A
gnomAD v4: 4-177442342-C-A
MyVariant Identifiers: chr4:g.178363496C>A (hg19) chr4:g.177442342C>A (hg38)
PubMed: PMID:11309371
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442342C>A , CM000666.2:g.177442342C>A GRCh38
NC_000004.11:g.178363496C>A , CM000666.1:g.178363496C>A GRCh37
NC_000004.10:g.178600490C>A NCBI36
NG_011845.2:g.5162G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264595.7:c.34G>T MANE Select ENSP00000264595.2:p.Val12Leu
ENST00000264595.6:c.34G>T ENSP00000264595.2:p.Val12Leu
ENST00000506853.5:n.68G>T
ENST00000510955.5:n.68G>T
ENST00000511231.1:n.68G>T
NM_000027.3:c.34G>T NP_000018.2:p.Val12Leu
NM_001171988.1:c.34G>T NP_001165459.1:p.Val12Leu
NR_033655.1:n.162G>T
XM_006714123.2:c.34G>T XP_006714186.1:p.Val12Leu
XR_001741155.2:n.128G>T
NM_000027.4:c.34G>T MANE Select NP_000018.2:p.Val12Leu
NM_001171988.2:c.34G>T NP_001165459.1:p.Val12Leu
NR_033655.2:n.96G>T
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