Canonical Allele Identifier: CA2672746379

Gene: AGA

Linked Data

• gnomAD v4: 4-177434377-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434377C>A , CM000666.2:g.177434377C>A	GRCh38
NC_000004.11:g.178355531C>A , CM000666.1:g.178355531C>A	GRCh37
NC_000004.10:g.178592525C>A	NCBI36
NG_011845.2:g.13127G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.806+5G>T MANE Select	ENSP00000264595.2:n.806+5G>T
ENST00000264595.6:c.806+5G>T	ENSP00000264595.2:n.806+5G>T
ENST00000502310.5:c.377+5G>T	ENSP00000423798.1:n.377+5G>T
NM_000027.3:c.806+5G>T	NP_000018.2:n.806+5G>T
NM_001171988.1:c.776+5G>T	NP_001165459.1:n.776+5G>T
NR_033655.1:n.858+5G>T
XR_001741155.2:n.878+5G>T
NM_000027.4:c.806+5G>T MANE Select	NP_000018.2:n.806+5G>T
NM_001171988.2:c.776+5G>T	NP_001165459.1:n.776+5G>T
NR_033655.2:n.792+5G>T