Canonical Allele Identifier: CA358782883

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178358640G>T (hg19) ; chr4:g.177437486G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437486G>T , CM000666.2:g.177437486G>T	GRCh38
NC_000004.11:g.178358640G>T , CM000666.1:g.178358640G>T	GRCh37
NC_000004.10:g.178595634G>T	NCBI36
NG_011845.2:g.10018C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.541C>A MANE Select	ENSP00000264595.2:p.Pro181Thr
ENST00000264595.6:c.541C>A	ENSP00000264595.2:p.Pro181Thr
ENST00000502310.5:c.196C>A	ENSP00000423798.1:p.Pro66Thr
ENST00000506853.5:n.575C>A
ENST00000510635.1:c.237C>A
ENST00000510955.5:n.462C>A
NM_000027.3:c.541C>A	NP_000018.2:p.Pro181Thr
NM_001171988.1:c.541C>A	NP_001165459.1:p.Pro181Thr
NR_033655.1:n.669C>A
XM_006714123.2:c.541C>A	XP_006714186.1:p.Pro181Thr
XR_001741155.2:n.635C>A
NM_000027.4:c.541C>A MANE Select	NP_000018.2:p.Pro181Thr
NM_001171988.2:c.541C>A	NP_001165459.1:p.Pro181Thr
NR_033655.2:n.603C>A