Canonical Allele Identifier: CA1071331115

Gene: AGA

Linked Data

• gnomAD v3: 4-177440678-C-T
• gnomAD v4: 4-177440678-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177440678C>T , CM000666.2:g.177440678C>T	GRCh38
NC_000004.11:g.178361832C>T , CM000666.1:g.178361832C>T	GRCh37
NC_000004.10:g.178598826C>T	NCBI36
NG_011845.2:g.6826G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.128-252G>A MANE Select	ENSP00000264595.2:n.128-252G>A
ENST00000264595.6:c.128-252G>A	ENSP00000264595.2:n.128-252G>A
ENST00000506853.5:n.162-252G>A
ENST00000510955.5:n.162-252G>A
ENST00000511231.1:n.162-252G>A
NM_000027.3:c.128-252G>A	NP_000018.2:n.128-252G>A
NM_001171988.1:c.128-252G>A	NP_001165459.1:n.128-252G>A
NR_033655.1:n.256-252G>A
XM_006714123.2:c.128-252G>A	XP_006714186.1:n.128-252G>A
XR_001741155.2:n.222-252G>A
NM_000027.4:c.128-252G>A MANE Select	NP_000018.2:n.128-252G>A
NM_001171988.2:c.128-252G>A	NP_001165459.1:n.128-252G>A
NR_033655.2:n.190-252G>A