Canonical Allele Identifier: CA1071328599

Gene: AGA

Linked Data

• dbSNP Id: rs1044048856
• gnomAD v3: 4-177434614-G-T
• gnomAD v4: 4-177434614-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434614G>T , CM000666.2:g.177434614G>T	GRCh38
NC_000004.11:g.178355768G>T , CM000666.1:g.178355768G>T	GRCh37
NC_000004.10:g.178592762G>T	NCBI36
NG_011845.2:g.12890C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.699-125C>A MANE Select	ENSP00000264595.2:n.699-125C>A
ENST00000264595.6:c.699-125C>A	ENSP00000264595.2:n.699-125C>A
ENST00000502310.5:c.278-133C>A	ENSP00000423798.1:n.278-133C>A
ENST00000506853.5:n.657-125C>A
ENST00000510635.1:c.373-133C>A
NM_000027.3:c.699-125C>A	NP_000018.2:n.699-125C>A
NM_001171988.1:c.677-133C>A	NP_001165459.1:n.677-133C>A
NR_033655.1:n.751-125C>A
XM_006714123.2:c.677-125C>A	XP_006714186.1:n.677-125C>A
XR_001741155.2:n.771-125C>A
NM_000027.4:c.699-125C>A MANE Select	NP_000018.2:n.699-125C>A
NM_001171988.2:c.677-133C>A	NP_001165459.1:n.677-133C>A
NR_033655.2:n.685-125C>A