Canonical Allele Identifier: CA358783774

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.178360807C>T (hg19) ; chr4:g.177439653C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439653C>T , CM000666.2:g.177439653C>T	GRCh38
NC_000004.11:g.178360807C>T , CM000666.1:g.178360807C>T	GRCh37
NC_000004.10:g.178597801C>T	NCBI36
NG_011845.2:g.7851G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.317G>A MANE Select	ENSP00000264595.2:p.Arg106Lys
ENST00000264595.6:c.317G>A	ENSP00000264595.2:p.Arg106Lys
ENST00000506853.5:n.351G>A
ENST00000510635.1:c.13G>A
ENST00000510955.5:n.315+620G>A
NM_000027.3:c.317G>A	NP_000018.2:p.Arg106Lys
NM_001171988.1:c.317G>A	NP_001165459.1:p.Arg106Lys
NR_033655.1:n.445G>A
XM_006714123.2:c.317G>A	XP_006714186.1:p.Arg106Lys
XR_001741155.2:n.411G>A
NM_000027.4:c.317G>A MANE Select	NP_000018.2:p.Arg106Lys
NM_001171988.2:c.317G>A	NP_001165459.1:p.Arg106Lys
NR_033655.2:n.379G>A