Canonical Allele Identifier: CA1071330574

Gene: AGA

Linked Data

• dbSNP Id: rs370022099
• gnomAD v3: 4-177439472-G-T
• gnomAD v4: 4-177439472-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439472G>T , CM000666.2:g.177439472G>T	GRCh38
NC_000004.11:g.178360626G>T , CM000666.1:g.178360626G>T	GRCh37
NC_000004.10:g.178597620G>T	NCBI36
NG_011845.2:g.8032C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.394+104C>A MANE Select	ENSP00000264595.2:n.394+104C>A
ENST00000264595.6:c.394+104C>A	ENSP00000264595.2:n.394+104C>A
ENST00000502310.5:c.49+104C>A	ENSP00000423798.1:n.49+104C>A
ENST00000506853.5:n.428+104C>A
ENST00000510635.1:c.90+104C>A
ENST00000510955.5:n.316-615C>A
NM_000027.3:c.394+104C>A	NP_000018.2:n.394+104C>A
NM_001171988.1:c.394+104C>A	NP_001165459.1:n.394+104C>A
NR_033655.1:n.522+104C>A
XM_006714123.2:c.394+104C>A	XP_006714186.1:n.394+104C>A
XR_001741155.2:n.488+104C>A
NM_000027.4:c.394+104C>A MANE Select	NP_000018.2:n.394+104C>A
NM_001171988.2:c.394+104C>A	NP_001165459.1:n.394+104C>A
NR_033655.2:n.456+104C>A