Canonical Allele Identifier: CA2578238410

Gene: AGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434321C>A , CM000666.2:g.177434321C>A	GRCh38
NC_000004.11:g.178355475C>A , CM000666.1:g.178355475C>A	GRCh37
NC_000004.10:g.178592469C>A	NCBI36
NG_011845.2:g.13183G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.806+61G>T MANE Select	ENSP00000264595.2:n.806+61G>T
ENST00000264595.6:c.806+61G>T	ENSP00000264595.2:n.806+61G>T
ENST00000502310.5:c.377+61G>T	ENSP00000423798.1:n.377+61G>T
NM_000027.3:c.806+61G>T	NP_000018.2:n.806+61G>T
NM_001171988.1:c.776+61G>T	NP_001165459.1:n.776+61G>T
NR_033655.1:n.858+61G>T
XR_001741155.2:n.878+61G>T
NM_000027.4:c.806+61G>T MANE Select	NP_000018.2:n.806+61G>T
NM_001171988.2:c.776+61G>T	NP_001165459.1:n.776+61G>T
NR_033655.2:n.792+61G>T