Canonical Allele Identifier: CA358784514
Gene: AGA HGNC NCBI

Linked Data

ClinVar Variation Id: 901464
ClinVar RCV Id: RCV001147343
dbSNP Id: rs1489211352
gnomAD v3: 4-177440376-C-T
gnomAD v4: 4-177440376-C-T
MyVariant Identifiers: chr4:g.178361530C>T (hg19) chr4:g.177440376C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177440376C>T , CM000666.2:g.177440376C>T GRCh38
NC_000004.11:g.178361530C>T , CM000666.1:g.178361530C>T GRCh37
NC_000004.10:g.178598524C>T NCBI36
NG_011845.2:g.7128G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264595.7:c.178G>A MANE Select ENSP00000264595.2:p.Gly60Ser
ENST00000264595.6:c.178G>A ENSP00000264595.2:p.Gly60Ser
ENST00000506853.5:n.212G>A
ENST00000510955.5:n.212G>A
ENST00000511231.1:n.212G>A
NM_000027.3:c.178G>A NP_000018.2:p.Gly60Ser
NM_001171988.1:c.178G>A NP_001165459.1:p.Gly60Ser
NR_033655.1:n.306G>A
XM_006714123.2:c.178G>A XP_006714186.1:p.Gly60Ser
XR_001741155.2:n.272G>A
NM_000027.4:c.178G>A MANE Select NP_000018.2:p.Gly60Ser
NM_001171988.2:c.178G>A NP_001165459.1:p.Gly60Ser
NR_033655.2:n.240G>A
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