Canonical Allele Identifier: CA442332569

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178358575A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437421A>T , CM000666.2:g.177437421A>T	GRCh38
NC_000004.11:g.178358575A>T , CM000666.1:g.178358575A>T	GRCh37
NC_000004.10:g.178595569A>T	NCBI36
NG_011845.2:g.10083T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.606T>A MANE Select	ENSP00000264595.2:p.Arg202=
ENST00000264595.6:c.606T>A	ENSP00000264595.2:p.Arg202=
ENST00000502310.5:c.261T>A	ENSP00000423798.1:p.Arg87=
ENST00000506853.5:n.640T>A
ENST00000510635.1:c.302T>A
ENST00000510955.5:n.527T>A
NM_000027.3:c.606T>A	NP_000018.2:p.Arg202=
NM_001171988.1:c.606T>A	NP_001165459.1:p.Arg202=
NR_033655.1:n.734T>A
XM_006714123.2:c.606T>A	XP_006714186.1:p.Arg202=
XR_001741155.2:n.700T>A
NM_000027.4:c.606T>A MANE Select	NP_000018.2:p.Arg202=
NM_001171988.2:c.606T>A	NP_001165459.1:p.Arg202=
NR_033655.2:n.668T>A