Canonical Allele Identifier: CA556484153

Gene: AGA

Linked Data

• dbSNP Id: rs1157584912
• gnomAD v2: 4-178359895-A-C
• gnomAD v4: 4-177438741-A-C
• MyVariant Identifiers: chr4:g.178359895A>C (hg19) ; chr4:g.177438741A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177438741A>C , CM000666.2:g.177438741A>C	GRCh38
NC_000004.11:g.178359895A>C , CM000666.1:g.178359895A>C	GRCh37
NC_000004.10:g.178596889A>C	NCBI36
NG_011845.2:g.8763T>G

Transcript Alleles

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