Canonical Allele Identifier: CA2672746410

Gene: AGA

Linked Data

• gnomAD v4: 4-177434546-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434546C>A , CM000666.2:g.177434546C>A	GRCh38
NC_000004.11:g.178355700C>A , CM000666.1:g.178355700C>A	GRCh37
NC_000004.10:g.178592694C>A	NCBI36
NG_011845.2:g.12958G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.699-57G>T MANE Select	ENSP00000264595.2:n.699-57G>T
ENST00000264595.6:c.699-57G>T	ENSP00000264595.2:n.699-57G>T
ENST00000502310.5:c.278-65G>T	ENSP00000423798.1:n.278-65G>T
ENST00000506853.5:n.657-57G>T
ENST00000510635.1:c.373-65G>T
NM_000027.3:c.699-57G>T	NP_000018.2:n.699-57G>T
NM_001171988.1:c.677-65G>T	NP_001165459.1:n.677-65G>T
NR_033655.1:n.751-57G>T
XM_006714123.2:c.677-57G>T	XP_006714186.1:n.677-57G>T
XR_001741155.2:n.771-57G>T
NM_000027.4:c.699-57G>T MANE Select	NP_000018.2:n.699-57G>T
NM_001171988.2:c.677-65G>T	NP_001165459.1:n.677-65G>T
NR_033655.2:n.685-57G>T