Canonical Allele Identifier: CA358783126

Gene: AGA

Linked Data

• ClinVar Variation Id: 2680747
• ClinVar RCV Id: RCV003468399
• MyVariant Identifiers: chr4:g.178359898C>G (hg19) ; chr4:g.177438744C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438744C>G , CM000666.2:g.177438744C>G	GRCh38
NC_000004.11:g.178359898C>G , CM000666.1:g.178359898C>G	GRCh37
NC_000004.10:g.178596892C>G	NCBI36
NG_011845.2:g.8760G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.507+1G>C MANE Select	ENSP00000264595.2:n.507+1G>C
ENST00000264595.6:c.507+1G>C	ENSP00000264595.2:n.507+1G>C
ENST00000502310.5:c.162+1G>C	ENSP00000423798.1:n.162+1G>C
ENST00000506853.5:n.541+1G>C
ENST00000510635.1:c.203+1G>C
ENST00000510955.5:n.428+1G>C
NM_000027.3:c.507+1G>C	NP_000018.2:n.507+1G>C
NM_001171988.1:c.507+1G>C	NP_001165459.1:n.507+1G>C
NR_033655.1:n.635+1G>C
XM_006714123.2:c.507+1G>C	XP_006714186.1:n.507+1G>C
XR_001741155.2:n.601+1G>C
NM_000027.4:c.507+1G>C MANE Select	NP_000018.2:n.507+1G>C
NM_001171988.2:c.507+1G>C	NP_001165459.1:n.507+1G>C
NR_033655.2:n.569+1G>C