Canonical Allele Identifier: CA2606722895

Gene: AGA

Linked Data

• dbSNP Id: rs2111026054
• gnomAD v3: 4-177441792-G-A
• gnomAD v4: 4-177441792-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177441792G>A , CM000666.2:g.177441792G>A	GRCh38
NC_000004.11:g.178362946G>A , CM000666.1:g.178362946G>A	GRCh37
NC_000004.10:g.178599940G>A	NCBI36
NG_011845.2:g.5712C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.127+457C>T MANE Select	ENSP00000264595.2:n.127+457C>T
ENST00000264595.6:c.127+457C>T	ENSP00000264595.2:n.127+457C>T
ENST00000506853.5:n.161+457C>T
ENST00000510955.5:n.161+457C>T
ENST00000511231.1:n.161+457C>T
NM_000027.3:c.127+457C>T	NP_000018.2:n.127+457C>T
NM_001171988.1:c.127+457C>T	NP_001165459.1:n.127+457C>T
NR_033655.1:n.255+457C>T
XM_006714123.2:c.127+457C>T	XP_006714186.1:n.127+457C>T
XR_001741155.2:n.221+457C>T
NM_000027.4:c.127+457C>T MANE Select	NP_000018.2:n.127+457C>T
NM_001171988.2:c.127+457C>T	NP_001165459.1:n.127+457C>T
NR_033655.2:n.189+457C>T