Canonical Allele Identifier: CA791503641

Gene: AGA

Linked Data

• ClinVar Variation Id: 1159745
• ClinVar RCV Id: RCV001503557
• dbSNP Id: rs1227443826
• gnomAD v4: 4-177442241-A-G
• MyVariant Identifiers: chr4:g.178363395A>G (hg19) ; chr4:g.177442241A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442241A>G , CM000666.2:g.177442241A>G	GRCh38
NC_000004.11:g.178363395A>G , CM000666.1:g.178363395A>G	GRCh37
NC_000004.10:g.178600389A>G	NCBI36
NG_011845.2:g.5263T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.127+8T>C MANE Select	ENSP00000264595.2:n.127+8T>C
ENST00000264595.6:c.127+8T>C	ENSP00000264595.2:n.127+8T>C
ENST00000506853.5:n.161+8T>C
ENST00000510955.5:n.161+8T>C
ENST00000511231.1:n.161+8T>C
NM_000027.3:c.127+8T>C	NP_000018.2:n.127+8T>C
NM_001171988.1:c.127+8T>C	NP_001165459.1:n.127+8T>C
NR_033655.1:n.255+8T>C
XM_006714123.2:c.127+8T>C	XP_006714186.1:n.127+8T>C
XR_001741155.2:n.221+8T>C
NM_000027.4:c.127+8T>C MANE Select	NP_000018.2:n.127+8T>C
NM_001171988.2:c.127+8T>C	NP_001165459.1:n.127+8T>C
NR_033655.2:n.189+8T>C