Canonical Allele Identifier: CA2578238549

Gene: AGA

Linked Data

• gnomAD v4: 4-177439722-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439722G>T , CM000666.2:g.177439722G>T	GRCh38
NC_000004.11:g.178360876G>T , CM000666.1:g.178360876G>T	GRCh37
NC_000004.10:g.178597870G>T	NCBI36
NG_011845.2:g.7782C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.282-34C>A MANE Select	ENSP00000264595.2:n.282-34C>A
ENST00000264595.6:c.282-34C>A	ENSP00000264595.2:n.282-34C>A
ENST00000506853.5:n.316-34C>A
ENST00000510955.5:n.315+551C>A
NM_000027.3:c.282-34C>A	NP_000018.2:n.282-34C>A
NM_001171988.1:c.282-34C>A	NP_001165459.1:n.282-34C>A
NR_033655.1:n.410-34C>A
XM_006714123.2:c.282-34C>A	XP_006714186.1:n.282-34C>A
XR_001741155.2:n.376-34C>A
NM_000027.4:c.282-34C>A MANE Select	NP_000018.2:n.282-34C>A
NM_001171988.2:c.282-34C>A	NP_001165459.1:n.282-34C>A
NR_033655.2:n.344-34C>A