Canonical Allele Identifier: CA3146812

Gene: AGA

Linked Data

• ClinVar Variation Id: 290584
• ClinVar RCV Id: RCV000365387 ; RCV001085928
• dbSNP Id: rs145465919
• ExAC: 4:178355580 G / A
• gnomAD v2: 4-178355580-G-A
• gnomAD v3: 4-177434426-G-A
• gnomAD v4: 4-177434426-G-A
• MyVariant Identifiers: chr4:g.178355580G>A (hg19) ; chr4:g.177434426G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434426G>A , CM000666.2:g.177434426G>A	GRCh38
NC_000004.11:g.178355580G>A , CM000666.1:g.178355580G>A	GRCh37
NC_000004.10:g.178592574G>A	NCBI36
NG_011845.2:g.13078C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.762C>T MANE Select	ENSP00000264595.2:p.Ala254=
ENST00000264595.6:c.762C>T	ENSP00000264595.2:p.Ala254=
ENST00000502310.5:c.333C>T	ENSP00000423798.1:p.Ala111=
ENST00000506853.5:n.720C>T
NM_000027.3:c.762C>T	NP_000018.2:p.Ala254=
NM_001171988.1:c.732C>T	NP_001165459.1:p.Ala244=
NR_033655.1:n.814C>T
XM_006714123.2:c.*56C>T	XP_006714186.1:n.*56C>T
XR_001741155.2:n.834C>T
NM_000027.4:c.762C>T MANE Select	NP_000018.2:p.Ala254=
NM_001171988.2:c.732C>T	NP_001165459.1:p.Ala244=
NR_033655.2:n.748C>T