Canonical Allele Identifier: CA2578238577

Gene: AGA

Linked Data

• gnomAD v4: 4-177442155-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442155T>C , CM000666.2:g.177442155T>C	GRCh38
NC_000004.11:g.178363309T>C , CM000666.1:g.178363309T>C	GRCh37
NC_000004.10:g.178600303T>C	NCBI36
NG_011845.2:g.5349A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.127+94A>G MANE Select	ENSP00000264595.2:n.127+94A>G
ENST00000264595.6:c.127+94A>G	ENSP00000264595.2:n.127+94A>G
ENST00000506853.5:n.161+94A>G
ENST00000510955.5:n.161+94A>G
ENST00000511231.1:n.161+94A>G
NM_000027.3:c.127+94A>G	NP_000018.2:n.127+94A>G
NM_001171988.1:c.127+94A>G	NP_001165459.1:n.127+94A>G
NR_033655.1:n.255+94A>G
XM_006714123.2:c.127+94A>G	XP_006714186.1:n.127+94A>G
XR_001741155.2:n.221+94A>G
NM_000027.4:c.127+94A>G MANE Select	NP_000018.2:n.127+94A>G
NM_001171988.2:c.127+94A>G	NP_001165459.1:n.127+94A>G
NR_033655.2:n.189+94A>G