Canonical Allele Identifier: CA3146817

Gene: AGA

Linked Data

• dbSNP Id: rs750546930
• ExAC: 4:178355600 C / A
• gnomAD v2: 4-178355600-C-A
• gnomAD v4: 4-177434446-C-A
• COSMIC: COSM6166953
• MyVariant Identifiers: chr4:g.178355600C>A (hg19) ; chr4:g.177434446C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434446C>A , CM000666.2:g.177434446C>A	GRCh38
NC_000004.11:g.178355600C>A , CM000666.1:g.178355600C>A	GRCh37
NC_000004.10:g.178592594C>A	NCBI36
NG_011845.2:g.13058G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.742G>T MANE Select	ENSP00000264595.2:p.Asp248Tyr
ENST00000264595.6:c.742G>T	ENSP00000264595.2:p.Asp248Tyr
ENST00000502310.5:c.313G>T	ENSP00000423798.1:p.Asp105Tyr
ENST00000506853.5:n.700G>T
ENST00000510635.1:c.408G>T
NM_000027.3:c.742G>T	NP_000018.2:p.Asp248Tyr
NM_001171988.1:c.712G>T	NP_001165459.1:p.Asp238Tyr
NR_033655.1:n.794G>T
XM_006714123.2:c.*36G>T	XP_006714186.1:n.*36G>T
XR_001741155.2:n.814G>T
NM_000027.4:c.742G>T MANE Select	NP_000018.2:p.Asp248Tyr
NM_001171988.2:c.712G>T	NP_001165459.1:p.Asp238Tyr
NR_033655.2:n.728G>T