Canonical Allele Identifier: CA2578238595

Gene: AGA

Linked Data

• gnomAD v4: 4-177442403-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442403G>C , CM000666.2:g.177442403G>C	GRCh38
NC_000004.11:g.178363557G>C , CM000666.1:g.178363557G>C	GRCh37
NC_000004.10:g.178600551G>C	NCBI36
NG_011845.2:g.5101C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.-28C>G MANE Select	ENSP00000264595.2:n.-28C>G
ENST00000264595.6:c.-28C>G	ENSP00000264595.2:n.-28C>G
ENST00000506853.5:n.7C>G
ENST00000510955.5:n.7C>G
ENST00000511231.1:n.7C>G
NM_000027.3:c.-28C>G	NP_000018.2:n.-28C>G
NM_001171988.1:c.-28C>G	NP_001165459.1:n.-28C>G
NR_033655.1:n.101C>G
XM_006714123.2:c.-28C>G	XP_006714186.1:n.-28C>G
XR_001741155.2:n.67C>G
NM_000027.4:c.-28C>G MANE Select	NP_000018.2:n.-28C>G
NM_001171988.2:c.-28C>G	NP_001165459.1:n.-28C>G
NR_033655.2:n.35C>G