Canonical Allele Identifier: CA358781915

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178355535C>T (hg19) ; chr4:g.177434381C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434381C>T , CM000666.2:g.177434381C>T	GRCh38
NC_000004.11:g.178355535C>T , CM000666.1:g.178355535C>T	GRCh37
NC_000004.10:g.178592529C>T	NCBI36
NG_011845.2:g.13123G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.806+1G>A MANE Select	ENSP00000264595.2:n.806+1G>A
ENST00000264595.6:c.806+1G>A	ENSP00000264595.2:n.806+1G>A
ENST00000502310.5:c.377+1G>A	ENSP00000423798.1:n.377+1G>A
NM_000027.3:c.806+1G>A	NP_000018.2:n.806+1G>A
NM_001171988.1:c.776+1G>A	NP_001165459.1:n.776+1G>A
NR_033655.1:n.858+1G>A
XR_001741155.2:n.878+1G>A
NM_000027.4:c.806+1G>A MANE Select	NP_000018.2:n.806+1G>A
NM_001171988.2:c.776+1G>A	NP_001165459.1:n.776+1G>A
NR_033655.2:n.792+1G>A