Canonical Allele Identifier: CA2672746401

Gene: AGA

Linked Data

• gnomAD v4: 4-177434532-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434532A>C , CM000666.2:g.177434532A>C	GRCh38
NC_000004.11:g.178355686A>C , CM000666.1:g.178355686A>C	GRCh37
NC_000004.10:g.178592680A>C	NCBI36
NG_011845.2:g.12972T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.699-43T>G MANE Select	ENSP00000264595.2:n.699-43T>G
ENST00000264595.6:c.699-43T>G	ENSP00000264595.2:n.699-43T>G
ENST00000502310.5:c.278-51T>G	ENSP00000423798.1:n.278-51T>G
ENST00000506853.5:n.657-43T>G
ENST00000510635.1:c.373-51T>G
NM_000027.3:c.699-43T>G	NP_000018.2:n.699-43T>G
NM_001171988.1:c.677-51T>G	NP_001165459.1:n.677-51T>G
NR_033655.1:n.751-43T>G
XM_006714123.2:c.677-43T>G	XP_006714186.1:n.677-43T>G
XR_001741155.2:n.771-43T>G
NM_000027.4:c.699-43T>G MANE Select	NP_000018.2:n.699-43T>G
NM_001171988.2:c.677-51T>G	NP_001165459.1:n.677-51T>G
NR_033655.2:n.685-43T>G