Canonical Allele Identifier: CA442333012

Gene: AGA

Linked Data

• gnomAD v4: 4-177440395-G-T
• MyVariant Identifiers: chr4:g.178361549G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177440395G>T , CM000666.2:g.177440395G>T	GRCh38
NC_000004.11:g.178361549G>T , CM000666.1:g.178361549G>T	GRCh37
NC_000004.10:g.178598543G>T	NCBI36
NG_011845.2:g.7109C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.159C>A MANE Select	ENSP00000264595.2:p.Ala53=
ENST00000264595.6:c.159C>A	ENSP00000264595.2:p.Ala53=
ENST00000506853.5:n.193C>A
ENST00000510955.5:n.193C>A
ENST00000511231.1:n.193C>A
NM_000027.3:c.159C>A	NP_000018.2:p.Ala53=
NM_001171988.1:c.159C>A	NP_001165459.1:p.Ala53=
NR_033655.1:n.287C>A
XM_006714123.2:c.159C>A	XP_006714186.1:p.Ala53=
XR_001741155.2:n.253C>A
NM_000027.4:c.159C>A MANE Select	NP_000018.2:p.Ala53=
NM_001171988.2:c.159C>A	NP_001165459.1:p.Ala53=
NR_033655.2:n.221C>A