Canonical Allele Identifier: CA358783875

Gene: AGA

Linked Data

• ClinVar Variation Id: 2124324
• ClinVar RCV Id: RCV003057102
• MyVariant Identifiers: chr4:g.178360832C>A (hg19) ; chr4:g.177439678C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439678C>A , CM000666.2:g.177439678C>A	GRCh38
NC_000004.11:g.178360832C>A , CM000666.1:g.178360832C>A	GRCh37
NC_000004.10:g.178597826C>A	NCBI36
NG_011845.2:g.7826G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.292G>T MANE Select	ENSP00000264595.2:p.Asp98Tyr
ENST00000264595.6:c.292G>T	ENSP00000264595.2:p.Asp98Tyr
ENST00000506853.5:n.326G>T
ENST00000510955.5:n.315+595G>T
NM_000027.3:c.292G>T	NP_000018.2:p.Asp98Tyr
NM_001171988.1:c.292G>T	NP_001165459.1:p.Asp98Tyr
NR_033655.1:n.420G>T
XM_006714123.2:c.292G>T	XP_006714186.1:p.Asp98Tyr
XR_001741155.2:n.386G>T
NM_000027.4:c.292G>T MANE Select	NP_000018.2:p.Asp98Tyr
NM_001171988.2:c.292G>T	NP_001165459.1:p.Asp98Tyr
NR_033655.2:n.354G>T