Canonical Allele Identifier: CA2672746440

Gene: AGA

Linked Data

• gnomAD v4: 4-177434605-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434605T>G , CM000666.2:g.177434605T>G	GRCh38
NC_000004.11:g.178355759T>G , CM000666.1:g.178355759T>G	GRCh37
NC_000004.10:g.178592753T>G	NCBI36
NG_011845.2:g.12899A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.699-116A>C MANE Select	ENSP00000264595.2:n.699-116A>C
ENST00000264595.6:c.699-116A>C	ENSP00000264595.2:n.699-116A>C
ENST00000502310.5:c.278-124A>C	ENSP00000423798.1:n.278-124A>C
ENST00000506853.5:n.657-116A>C
ENST00000510635.1:c.373-124A>C
NM_000027.3:c.699-116A>C	NP_000018.2:n.699-116A>C
NM_001171988.1:c.677-124A>C	NP_001165459.1:n.677-124A>C
NR_033655.1:n.751-116A>C
XM_006714123.2:c.677-116A>C	XP_006714186.1:n.677-116A>C
XR_001741155.2:n.771-116A>C
NM_000027.4:c.699-116A>C MANE Select	NP_000018.2:n.699-116A>C
NM_001171988.2:c.677-124A>C	NP_001165459.1:n.677-124A>C
NR_033655.2:n.685-116A>C