Canonical Allele Identifier: CA358782612

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178358581A>T (hg19) ; chr4:g.177437427A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437427A>T , CM000666.2:g.177437427A>T	GRCh38
NC_000004.11:g.178358581A>T , CM000666.1:g.178358581A>T	GRCh37
NC_000004.10:g.178595575A>T	NCBI36
NG_011845.2:g.10077T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.600T>A MANE Select	ENSP00000264595.2:p.Asp200Glu
ENST00000264595.6:c.600T>A	ENSP00000264595.2:p.Asp200Glu
ENST00000502310.5:c.255T>A	ENSP00000423798.1:p.Asp85Glu
ENST00000506853.5:n.634T>A
ENST00000510635.1:c.296T>A
ENST00000510955.5:n.521T>A
NM_000027.3:c.600T>A	NP_000018.2:p.Asp200Glu
NM_001171988.1:c.600T>A	NP_001165459.1:p.Asp200Glu
NR_033655.1:n.728T>A
XM_006714123.2:c.600T>A	XP_006714186.1:p.Asp200Glu
XR_001741155.2:n.694T>A
NM_000027.4:c.600T>A MANE Select	NP_000018.2:p.Asp200Glu
NM_001171988.2:c.600T>A	NP_001165459.1:p.Asp200Glu
NR_033655.2:n.662T>A