Canonical Allele Identifier: CA358781104
Gene: AGA HGNC NCBI

Linked Data

ClinVar Variation Id: 555229
ClinVar RCV Id: RCV000671008
dbSNP Id: rs386833437
MyVariant Identifiers: chr4:g.178354367C>T (hg19) chr4:g.177433213C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177433213C>T , CM000666.2:g.177433213C>T GRCh38
NC_000004.11:g.178354367C>T , CM000666.1:g.178354367C>T GRCh37
NC_000004.10:g.178591361C>T NCBI36
NG_011845.2:g.14291G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264595.7:c.940+1G>A MANE Select ENSP00000264595.2:n.940+1G>A
ENST00000264595.6:c.940+1G>A ENSP00000264595.2:n.940+1G>A
NM_000027.3:c.940+1G>A NP_000018.2:n.940+1G>A
NM_001171988.1:c.910+1G>A NP_001165459.1:n.910+1G>A
NR_033655.1:n.992+1G>A
XR_001741155.2:n.1012+1G>A
NM_000027.4:c.940+1G>A MANE Select NP_000018.2:n.940+1G>A
NM_001171988.2:c.910+1G>A NP_001165459.1:n.910+1G>A
NR_033655.2:n.926+1G>A
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