Canonical Allele Identifier: CA358782983

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178358663G>A (hg19) ; chr4:g.177437509G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437509G>A , CM000666.2:g.177437509G>A	GRCh38
NC_000004.11:g.178358663G>A , CM000666.1:g.178358663G>A	GRCh37
NC_000004.10:g.178595657G>A	NCBI36
NG_011845.2:g.9995C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.518C>T MANE Select	ENSP00000264595.2:p.Pro173Leu
ENST00000264595.6:c.518C>T	ENSP00000264595.2:p.Pro173Leu
ENST00000502310.5:c.173C>T	ENSP00000423798.1:p.Pro58Leu
ENST00000506853.5:n.552C>T
ENST00000510635.1:c.214C>T
ENST00000510955.5:n.439C>T
NM_000027.3:c.518C>T	NP_000018.2:p.Pro173Leu
NM_001171988.1:c.518C>T	NP_001165459.1:p.Pro173Leu
NR_033655.1:n.646C>T
XM_006714123.2:c.518C>T	XP_006714186.1:p.Pro173Leu
XR_001741155.2:n.612C>T
NM_000027.4:c.518C>T MANE Select	NP_000018.2:p.Pro173Leu
NM_001171988.2:c.518C>T	NP_001165459.1:p.Pro173Leu
NR_033655.2:n.580C>T