Canonical Allele Identifier: CA212728

Gene: AGA

Linked Data

• ClinVar Variation Id: 227
• ClinVar RCV Id: RCV000000251
• dbSNP Id: rs386833437
• ExAC: 4:178354367 C / A
• gnomAD v2: 4-178354367-C-A
• gnomAD v3: 4-177433213-C-A
• gnomAD v4: 4-177433213-C-A
• MyVariant Identifiers: chr4:g.178354367C>A (hg19) ; chr4:g.177433213C>A (hg38)
• PubMed: PMID:1722323 ; PMID:1879549 ; PMID:1904874 ; PMID:6883788 ; PMID:8830180

Genomic Alleles

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

Transcript Alleles

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