Canonical Allele Identifier: CA2578238542

Gene: AGA

Linked Data

• gnomAD v4: 4-177439560-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439560G>T , CM000666.2:g.177439560G>T	GRCh38
NC_000004.11:g.178360714G>T , CM000666.1:g.178360714G>T	GRCh37
NC_000004.10:g.178597708G>T	NCBI36
NG_011845.2:g.7944C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.394+16C>A MANE Select	ENSP00000264595.2:n.394+16C>A
ENST00000264595.6:c.394+16C>A	ENSP00000264595.2:n.394+16C>A
ENST00000502310.5:c.49+16C>A	ENSP00000423798.1:n.49+16C>A
ENST00000506853.5:n.428+16C>A
ENST00000510635.1:c.90+16C>A
ENST00000510955.5:n.316-703C>A
NM_000027.3:c.394+16C>A	NP_000018.2:n.394+16C>A
NM_001171988.1:c.394+16C>A	NP_001165459.1:n.394+16C>A
NR_033655.1:n.522+16C>A
XM_006714123.2:c.394+16C>A	XP_006714186.1:n.394+16C>A
XR_001741155.2:n.488+16C>A
NM_000027.4:c.394+16C>A MANE Select	NP_000018.2:n.394+16C>A
NM_001171988.2:c.394+16C>A	NP_001165459.1:n.394+16C>A
NR_033655.2:n.456+16C>A