Canonical Allele Identifier: CA442332599

Gene: AGA

Linked Data

• ClinVar Variation Id: 1131241
• ClinVar RCV Id: RCV001465069
• dbSNP Id: rs2111015751
• MyVariant Identifiers: chr4:g.178358632T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437478T>C , CM000666.2:g.177437478T>C	GRCh38
NC_000004.11:g.178358632T>C , CM000666.1:g.178358632T>C	GRCh37
NC_000004.10:g.178595626T>C	NCBI36
NG_011845.2:g.10026A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.549A>G MANE Select	ENSP00000264595.2:p.Lys183=
ENST00000264595.6:c.549A>G	ENSP00000264595.2:p.Lys183=
ENST00000502310.5:c.204A>G	ENSP00000423798.1:p.Lys68=
ENST00000506853.5:n.583A>G
ENST00000510635.1:c.245A>G
ENST00000510955.5:n.470A>G
NM_000027.3:c.549A>G	NP_000018.2:p.Lys183=
NM_001171988.1:c.549A>G	NP_001165459.1:p.Lys183=
NR_033655.1:n.677A>G
XM_006714123.2:c.549A>G	XP_006714186.1:p.Lys183=
XR_001741155.2:n.643A>G
NM_000027.4:c.549A>G MANE Select	NP_000018.2:p.Lys183=
NM_001171988.2:c.549A>G	NP_001165459.1:p.Lys183=
NR_033655.2:n.611A>G