Canonical Allele Identifier: CA791502423

Gene: AGA

Linked Data

• dbSNP Id: rs1274715551
• gnomAD v3: 4-177440497-A-T
• gnomAD v4: 4-177440497-A-T
• MyVariant Identifiers: chr4:g.178361651A>T (hg19) ; chr4:g.177440497A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177440497A>T , CM000666.2:g.177440497A>T	GRCh38
NC_000004.11:g.178361651A>T , CM000666.1:g.178361651A>T	GRCh37
NC_000004.10:g.178598645A>T	NCBI36
NG_011845.2:g.7007T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.128-71T>A MANE Select	ENSP00000264595.2:n.128-71T>A
ENST00000264595.6:c.128-71T>A	ENSP00000264595.2:n.128-71T>A
ENST00000506853.5:n.162-71T>A
ENST00000510955.5:n.162-71T>A
ENST00000511231.1:n.162-71T>A
NM_000027.3:c.128-71T>A	NP_000018.2:n.128-71T>A
NM_001171988.1:c.128-71T>A	NP_001165459.1:n.128-71T>A
NR_033655.1:n.256-71T>A
XM_006714123.2:c.128-71T>A	XP_006714186.1:n.128-71T>A
XR_001741155.2:n.222-71T>A
NM_000027.4:c.128-71T>A MANE Select	NP_000018.2:n.128-71T>A
NM_001171988.2:c.128-71T>A	NP_001165459.1:n.128-71T>A
NR_033655.2:n.190-71T>A