Canonical Allele Identifier: CA358782255

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178355590G>T (hg19) ; chr4:g.177434436G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434436G>T , CM000666.2:g.177434436G>T	GRCh38
NC_000004.11:g.178355590G>T , CM000666.1:g.178355590G>T	GRCh37
NC_000004.10:g.178592584G>T	NCBI36
NG_011845.2:g.13068C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.752C>A MANE Select	ENSP00000264595.2:p.Ala251Glu
ENST00000264595.6:c.752C>A	ENSP00000264595.2:p.Ala251Glu
ENST00000502310.5:c.323C>A	ENSP00000423798.1:p.Ala108Glu
ENST00000506853.5:n.710C>A
NM_000027.3:c.752C>A	NP_000018.2:p.Ala251Glu
NM_001171988.1:c.722C>A	NP_001165459.1:p.Ala241Glu
NR_033655.1:n.804C>A
XM_006714123.2:c.*46C>A	XP_006714186.1:n.*46C>A
XR_001741155.2:n.824C>A
NM_000027.4:c.752C>A MANE Select	NP_000018.2:p.Ala251Glu
NM_001171988.2:c.722C>A	NP_001165459.1:p.Ala241Glu
NR_033655.2:n.738C>A