Canonical Allele Identifier: CA358782271

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178355598G>T (hg19) ; chr4:g.177434444G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434444G>T , CM000666.2:g.177434444G>T	GRCh38
NC_000004.11:g.178355598G>T , CM000666.1:g.178355598G>T	GRCh37
NC_000004.10:g.178592592G>T	NCBI36
NG_011845.2:g.13060C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.744C>A MANE Select	ENSP00000264595.2:p.Asp248Glu
ENST00000264595.6:c.744C>A	ENSP00000264595.2:p.Asp248Glu
ENST00000502310.5:c.315C>A	ENSP00000423798.1:p.Asp105Glu
ENST00000506853.5:n.702C>A
ENST00000510635.1:c.410C>A
NM_000027.3:c.744C>A	NP_000018.2:p.Asp248Glu
NM_001171988.1:c.714C>A	NP_001165459.1:p.Asp238Glu
NR_033655.1:n.796C>A
XM_006714123.2:c.*38C>A	XP_006714186.1:n.*38C>A
XR_001741155.2:n.816C>A
NM_000027.4:c.744C>A MANE Select	NP_000018.2:p.Asp248Glu
NM_001171988.2:c.714C>A	NP_001165459.1:p.Asp238Glu
NR_033655.2:n.730C>A