Canonical Allele Identifier: CA358783223

Gene: AGA

Linked Data

• gnomAD v4: 4-177438764-C-T
• MyVariant Identifiers: chr4:g.178359918C>T (hg19) ; chr4:g.177438764C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438764C>T , CM000666.2:g.177438764C>T	GRCh38
NC_000004.11:g.178359918C>T , CM000666.1:g.178359918C>T	GRCh37
NC_000004.10:g.178596912C>T	NCBI36
NG_011845.2:g.8740G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.488G>A MANE Select	ENSP00000264595.2:p.Cys163Tyr
ENST00000264595.6:c.488G>A	ENSP00000264595.2:p.Cys163Tyr
ENST00000502310.5:c.143G>A	ENSP00000423798.1:p.Cys48Tyr
ENST00000506853.5:n.522G>A
ENST00000510635.1:c.184G>A
ENST00000510955.5:n.409G>A
NM_000027.3:c.488G>A	NP_000018.2:p.Cys163Tyr
NM_001171988.1:c.488G>A	NP_001165459.1:p.Cys163Tyr
NR_033655.1:n.616G>A
XM_006714123.2:c.488G>A	XP_006714186.1:p.Cys163Tyr
XR_001741155.2:n.582G>A
NM_000027.4:c.488G>A MANE Select	NP_000018.2:p.Cys163Tyr
NM_001171988.2:c.488G>A	NP_001165459.1:p.Cys163Tyr
NR_033655.2:n.550G>A