Canonical Allele Identifier: CA442332306

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178355601A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434447A>C , CM000666.2:g.177434447A>C	GRCh38
NC_000004.11:g.178355601A>C , CM000666.1:g.178355601A>C	GRCh37
NC_000004.10:g.178592595A>C	NCBI36
NG_011845.2:g.13057T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.741T>G MANE Select	ENSP00000264595.2:p.Ala247=
ENST00000264595.6:c.741T>G	ENSP00000264595.2:p.Ala247=
ENST00000502310.5:c.312T>G	ENSP00000423798.1:p.Ala104=
ENST00000506853.5:n.699T>G
ENST00000510635.1:c.407T>G
NM_000027.3:c.741T>G	NP_000018.2:p.Ala247=
NM_001171988.1:c.711T>G	NP_001165459.1:p.Ala237=
NR_033655.1:n.793T>G
XM_006714123.2:c.*35T>G	XP_006714186.1:n.*35T>G
XR_001741155.2:n.813T>G
NM_000027.4:c.741T>G MANE Select	NP_000018.2:p.Ala247=
NM_001171988.2:c.711T>G	NP_001165459.1:p.Ala237=
NR_033655.2:n.727T>G