Canonical Allele Identifier: CA442332334

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178355640A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434486A>C , CM000666.2:g.177434486A>C	GRCh38
NC_000004.11:g.178355640A>C , CM000666.1:g.178355640A>C	GRCh37
NC_000004.10:g.178592634A>C	NCBI36
NG_011845.2:g.13018T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.702T>G MANE Select	ENSP00000264595.2:p.Arg234=
ENST00000264595.6:c.702T>G	ENSP00000264595.2:p.Arg234=
ENST00000502310.5:c.278-5T>G	ENSP00000423798.1:n.278-5T>G
ENST00000506853.5:n.660T>G
ENST00000510635.1:c.373-5T>G
NM_000027.3:c.702T>G	NP_000018.2:p.Arg234=
NM_001171988.1:c.677-5T>G	NP_001165459.1:n.677-5T>G
NR_033655.1:n.754T>G
XM_006714123.2:c.680T>G	XP_006714186.1:p.Val227Gly
XR_001741155.2:n.774T>G
NM_000027.4:c.702T>G MANE Select	NP_000018.2:p.Arg234=
NM_001171988.2:c.677-5T>G	NP_001165459.1:n.677-5T>G
NR_033655.2:n.688T>G