Canonical Allele Identifier: CA358782813

Gene: AGA

Linked Data

• ClinVar Variation Id: 2199875
• ClinVar RCV Id: RCV002654573
• gnomAD v4: 4-177437470-C-G
• MyVariant Identifiers: chr4:g.178358624C>G (hg19) ; chr4:g.177437470C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437470C>G , CM000666.2:g.177437470C>G	GRCh38
NC_000004.11:g.178358624C>G , CM000666.1:g.178358624C>G	GRCh37
NC_000004.10:g.178595618C>G	NCBI36
NG_011845.2:g.10034G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.557G>C MANE Select	ENSP00000264595.2:p.Gly186Ala
ENST00000264595.6:c.557G>C	ENSP00000264595.2:p.Gly186Ala
ENST00000502310.5:c.212G>C	ENSP00000423798.1:p.Gly71Ala
ENST00000506853.5:n.591G>C
ENST00000510635.1:c.253G>C
ENST00000510955.5:n.478G>C
NM_000027.3:c.557G>C	NP_000018.2:p.Gly186Ala
NM_001171988.1:c.557G>C	NP_001165459.1:p.Gly186Ala
NR_033655.1:n.685G>C
XM_006714123.2:c.557G>C	XP_006714186.1:p.Gly186Ala
XR_001741155.2:n.651G>C
NM_000027.4:c.557G>C MANE Select	NP_000018.2:p.Gly186Ala
NM_001171988.2:c.557G>C	NP_001165459.1:p.Gly186Ala
NR_033655.2:n.619G>C