Canonical Allele Identifier: CA358782958

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178358657G>T (hg19) ; chr4:g.177437503G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437503G>T , CM000666.2:g.177437503G>T	GRCh38
NC_000004.11:g.178358657G>T , CM000666.1:g.178358657G>T	GRCh37
NC_000004.10:g.178595651G>T	NCBI36
NG_011845.2:g.10001C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.524C>A MANE Select	ENSP00000264595.2:p.Pro175His
ENST00000264595.6:c.524C>A	ENSP00000264595.2:p.Pro175His
ENST00000502310.5:c.179C>A	ENSP00000423798.1:p.Pro60His
ENST00000506853.5:n.558C>A
ENST00000510635.1:c.220C>A
ENST00000510955.5:n.445C>A
NM_000027.3:c.524C>A	NP_000018.2:p.Pro175His
NM_001171988.1:c.524C>A	NP_001165459.1:p.Pro175His
NR_033655.1:n.652C>A
XM_006714123.2:c.524C>A	XP_006714186.1:p.Pro175His
XR_001741155.2:n.618C>A
NM_000027.4:c.524C>A MANE Select	NP_000018.2:p.Pro175His
NM_001171988.2:c.524C>A	NP_001165459.1:p.Pro175His
NR_033655.2:n.586C>A