Canonical Allele Identifier: CA442332571

Gene: AGA

Linked Data

• gnomAD v4: 4-177437430-T-C
• MyVariant Identifiers: chr4:g.178358584T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437430T>C , CM000666.2:g.177437430T>C	GRCh38
NC_000004.11:g.178358584T>C , CM000666.1:g.178358584T>C	GRCh37
NC_000004.10:g.178595578T>C	NCBI36
NG_011845.2:g.10074A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.597A>G MANE Select	ENSP00000264595.2:p.Glu199=
ENST00000264595.6:c.597A>G	ENSP00000264595.2:p.Glu199=
ENST00000502310.5:c.252A>G	ENSP00000423798.1:p.Glu84=
ENST00000506853.5:n.631A>G
ENST00000510635.1:c.293A>G
ENST00000510955.5:n.518A>G
NM_000027.3:c.597A>G	NP_000018.2:p.Glu199=
NM_001171988.1:c.597A>G	NP_001165459.1:p.Glu199=
NR_033655.1:n.725A>G
XM_006714123.2:c.597A>G	XP_006714186.1:p.Glu199=
XR_001741155.2:n.691A>G
NM_000027.4:c.597A>G MANE Select	NP_000018.2:p.Glu199=
NM_001171988.2:c.597A>G	NP_001165459.1:p.Glu199=
NR_033655.2:n.659A>G