Canonical Allele Identifier: CA358782698

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178358599G>C (hg19) ; chr4:g.177437445G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437445G>C , CM000666.2:g.177437445G>C	GRCh38
NC_000004.11:g.178358599G>C , CM000666.1:g.178358599G>C	GRCh37
NC_000004.10:g.178595593G>C	NCBI36
NG_011845.2:g.10059C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.582C>G MANE Select	ENSP00000264595.2:p.Ile194Met
ENST00000264595.6:c.582C>G	ENSP00000264595.2:p.Ile194Met
ENST00000502310.5:c.237C>G	ENSP00000423798.1:p.Ile79Met
ENST00000506853.5:n.616C>G
ENST00000510635.1:c.278C>G
ENST00000510955.5:n.503C>G
NM_000027.3:c.582C>G	NP_000018.2:p.Ile194Met
NM_001171988.1:c.582C>G	NP_001165459.1:p.Ile194Met
NR_033655.1:n.710C>G
XM_006714123.2:c.582C>G	XP_006714186.1:p.Ile194Met
XR_001741155.2:n.676C>G
NM_000027.4:c.582C>G MANE Select	NP_000018.2:p.Ile194Met
NM_001171988.2:c.582C>G	NP_001165459.1:p.Ile194Met
NR_033655.2:n.644C>G