Canonical Allele Identifier: CA358785215
Gene: AGA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442374A>C , CM000666.2:g.177442374A>C GRCh38
NC_000004.11:g.178363528A>C , CM000666.1:g.178363528A>C GRCh37
NC_000004.10:g.178600522A>C NCBI36
NG_011845.2:g.5130T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.2T>G MANE Select ENSP00000264595.2:p.Met1Arg
ENST00000264595.6:c.2T>G ENSP00000264595.2:p.Met1Arg
ENST00000506853.5:n.36T>G
ENST00000510955.5:n.36T>G
ENST00000511231.1:n.36T>G
NM_000027.3:c.2T>G NP_000018.2:p.Met1Arg
NM_001171988.1:c.2T>G NP_001165459.1:p.Met1Arg
NR_033655.1:n.130T>G
XM_006714123.2:c.2T>G XP_006714186.1:p.Met1Arg
XR_001741155.2:n.96T>G
NM_000027.4:c.2T>G MANE Select NP_000018.2:p.Met1Arg
NM_001171988.2:c.2T>G NP_001165459.1:p.Met1Arg
NR_033655.2:n.64T>G