Canonical Allele Identifier: CA110791895

Gene: AGA

Linked Data

• ClinVar Variation Id: 2506300
• ClinVar RCV Id: RCV003236531
• dbSNP Id: rs937973897
• COSMIC: COSM4123561
• MyVariant Identifiers: chr4:g.178363527C>T (hg19) ; chr4:g.177442373C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442373C>T , CM000666.2:g.177442373C>T	GRCh38
NC_000004.11:g.178363527C>T , CM000666.1:g.178363527C>T	GRCh37
NC_000004.10:g.178600521C>T	NCBI36
NG_011845.2:g.5131G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.3G>A MANE Select	ENSP00000264595.2:p.Met1Ile
ENST00000264595.6:c.3G>A	ENSP00000264595.2:p.Met1Ile
ENST00000506853.5:n.37G>A
ENST00000510955.5:n.37G>A
ENST00000511231.1:n.37G>A
NM_000027.3:c.3G>A	NP_000018.2:p.Met1Ile
NM_001171988.1:c.3G>A	NP_001165459.1:p.Met1Ile
NR_033655.1:n.131G>A
XM_006714123.2:c.3G>A	XP_006714186.1:p.Met1Ile
XR_001741155.2:n.97G>A
NM_000027.4:c.3G>A MANE Select	NP_000018.2:p.Met1Ile
NM_001171988.2:c.3G>A	NP_001165459.1:p.Met1Ile
NR_033655.2:n.65G>A