Canonical Allele Identifier: CA1071331699

Gene: AGA

Linked Data

• dbSNP Id: rs1737053999
• gnomAD v3: 4-177442232-A-G
• gnomAD v4: 4-177442232-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442232A>G , CM000666.2:g.177442232A>G	GRCh38
NC_000004.11:g.178363386A>G , CM000666.1:g.178363386A>G	GRCh37
NC_000004.10:g.178600380A>G	NCBI36
NG_011845.2:g.5272T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.127+17T>C MANE Select	ENSP00000264595.2:n.127+17T>C
ENST00000264595.6:c.127+17T>C	ENSP00000264595.2:n.127+17T>C
ENST00000506853.5:n.161+17T>C
ENST00000510955.5:n.161+17T>C
ENST00000511231.1:n.161+17T>C
NM_000027.3:c.127+17T>C	NP_000018.2:n.127+17T>C
NM_001171988.1:c.127+17T>C	NP_001165459.1:n.127+17T>C
NR_033655.1:n.255+17T>C
XM_006714123.2:c.127+17T>C	XP_006714186.1:n.127+17T>C
XR_001741155.2:n.221+17T>C
NM_000027.4:c.127+17T>C MANE Select	NP_000018.2:n.127+17T>C
NM_001171988.2:c.127+17T>C	NP_001165459.1:n.127+17T>C
NR_033655.2:n.189+17T>C