Canonical Allele Identifier: CA1515644659

Gene: AGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439591A= , CM000666.2:g.177439591A=	GRCh38
NC_000004.11:g.178360745A= , CM000666.1:g.178360745A=	GRCh37
NC_000004.10:g.178597739A=	NCBI36
NG_011845.2:g.7913T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.379T= MANE Select	ENSP00000264595.2:p.Leu127=
ENST00000264595.6:c.379T=	ENSP00000264595.2:p.Leu127=
ENST00000502310.5:c.34T=	ENSP00000423798.1:p.Leu12=
ENST00000506853.5:n.413T=
ENST00000510635.1:c.75T=
ENST00000510955.5:n.315+682T=
NM_000027.3:c.379T=	NP_000018.2:p.Leu127=
NM_001171988.1:c.379T=	NP_001165459.1:p.Leu127=
NR_033655.1:n.507T=
XM_006714123.2:c.379T=	XP_006714186.1:p.Leu127=
XR_001741155.2:n.473T=
NM_000027.4:c.379T= MANE Select	NP_000018.2:p.Leu127=
NM_001171988.2:c.379T=	NP_001165459.1:p.Leu127=
NR_033655.2:n.441T=