Canonical Allele Identifier: CA358782663

Gene: AGA

Linked Data

• gnomAD v4: 4-177437438-C-T
• MyVariant Identifiers: chr4:g.178358592C>T (hg19) ; chr4:g.177437438C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437438C>T , CM000666.2:g.177437438C>T	GRCh38
NC_000004.11:g.178358592C>T , CM000666.1:g.178358592C>T	GRCh37
NC_000004.10:g.178595586C>T	NCBI36
NG_011845.2:g.10066G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.589G>A MANE Select	ENSP00000264595.2:p.Glu197Lys
ENST00000264595.6:c.589G>A	ENSP00000264595.2:p.Glu197Lys
ENST00000502310.5:c.244G>A	ENSP00000423798.1:p.Glu82Lys
ENST00000506853.5:n.623G>A
ENST00000510635.1:c.285G>A
ENST00000510955.5:n.510G>A
NM_000027.3:c.589G>A	NP_000018.2:p.Glu197Lys
NM_001171988.1:c.589G>A	NP_001165459.1:p.Glu197Lys
NR_033655.1:n.717G>A
XM_006714123.2:c.589G>A	XP_006714186.1:p.Glu197Lys
XR_001741155.2:n.683G>A
NM_000027.4:c.589G>A MANE Select	NP_000018.2:p.Glu197Lys
NM_001171988.2:c.589G>A	NP_001165459.1:p.Glu197Lys
NR_033655.2:n.651G>A