Canonical Allele Identifier: CA3146954

Gene: AGA

Linked Data

• ClinVar Variation Id: 291257
• ClinVar RCV Id: RCV000364848 ; RCV000984239
• dbSNP Id: rs765070743
• ExAC: 4:178360805 G / A
• gnomAD v2: 4-178360805-G-A
• gnomAD v3: 4-177439651-G-A
• gnomAD v4: 4-177439651-G-A
• MyVariant Identifiers: chr4:g.178360805G>A (hg19) ; chr4:g.177439651G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439651G>A , CM000666.2:g.177439651G>A	GRCh38
NC_000004.11:g.178360805G>A , CM000666.1:g.178360805G>A	GRCh37
NC_000004.10:g.178597799G>A	NCBI36
NG_011845.2:g.7853C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.319C>T MANE Select	ENSP00000264595.2:p.Arg107Ter
ENST00000264595.6:c.319C>T	ENSP00000264595.2:p.Arg107Ter
ENST00000506853.5:n.353C>T
ENST00000510635.1:c.15C>T
ENST00000510955.5:n.315+622C>T
NM_000027.3:c.319C>T	NP_000018.2:p.Arg107Ter
NM_001171988.1:c.319C>T	NP_001165459.1:p.Arg107Ter
NR_033655.1:n.447C>T
XM_006714123.2:c.319C>T	XP_006714186.1:p.Arg107Ter
XR_001741155.2:n.413C>T
NM_000027.4:c.319C>T MANE Select	NP_000018.2:p.Arg107Ter
NM_001171988.2:c.319C>T	NP_001165459.1:p.Arg107Ter
NR_033655.2:n.381C>T