Canonical Allele Identifier: CA358783119

Gene: AGA

Linked Data

• dbSNP Id: rs766165178
• MyVariant Identifiers: chr4:g.178359897A>C (hg19) ; chr4:g.177438743A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438743A>C , CM000666.2:g.177438743A>C	GRCh38
NC_000004.11:g.178359897A>C , CM000666.1:g.178359897A>C	GRCh37
NC_000004.10:g.178596891A>C	NCBI36
NG_011845.2:g.8761T>G

Transcript Alleles

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