Canonical Allele Identifier: CA358784362

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178361501A>T (hg19) ; chr4:g.177440347A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177440347A>T , CM000666.2:g.177440347A>T	GRCh38
NC_000004.11:g.178361501A>T , CM000666.1:g.178361501A>T	GRCh37
NC_000004.10:g.178598495A>T	NCBI36
NG_011845.2:g.7157T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.207T>A MANE Select	ENSP00000264595.2:p.Cys69Ter
ENST00000264595.6:c.207T>A	ENSP00000264595.2:p.Cys69Ter
ENST00000506853.5:n.241T>A
ENST00000510955.5:n.241T>A
ENST00000511231.1:n.241T>A
NM_000027.3:c.207T>A	NP_000018.2:p.Cys69Ter
NM_001171988.1:c.207T>A	NP_001165459.1:p.Cys69Ter
NR_033655.1:n.335T>A
XM_006714123.2:c.207T>A	XP_006714186.1:p.Cys69Ter
XR_001741155.2:n.301T>A
NM_000027.4:c.207T>A MANE Select	NP_000018.2:p.Cys69Ter
NM_001171988.2:c.207T>A	NP_001165459.1:p.Cys69Ter
NR_033655.2:n.269T>A