Canonical Allele Identifier: CA2672748570

Gene: AGA

Linked Data

• ClinVar Variation Id: 2712924
• ClinVar RCV Id: RCV003496448
• gnomAD v4: 4-177442237-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442237G>A , CM000666.2:g.177442237G>A	GRCh38
NC_000004.11:g.178363391G>A , CM000666.1:g.178363391G>A	GRCh37
NC_000004.10:g.178600385G>A	NCBI36
NG_011845.2:g.5267C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.127+12C>T MANE Select	ENSP00000264595.2:n.127+12C>T
ENST00000264595.6:c.127+12C>T	ENSP00000264595.2:n.127+12C>T
ENST00000506853.5:n.161+12C>T
ENST00000510955.5:n.161+12C>T
ENST00000511231.1:n.161+12C>T
NM_000027.3:c.127+12C>T	NP_000018.2:n.127+12C>T
NM_001171988.1:c.127+12C>T	NP_001165459.1:n.127+12C>T
NR_033655.1:n.255+12C>T
XM_006714123.2:c.127+12C>T	XP_006714186.1:n.127+12C>T
XR_001741155.2:n.221+12C>T
NM_000027.4:c.127+12C>T MANE Select	NP_000018.2:n.127+12C>T
NM_001171988.2:c.127+12C>T	NP_001165459.1:n.127+12C>T
NR_033655.2:n.189+12C>T