Canonical Allele Identifier: CA358785163
Gene: AGA HGNC NCBI

Linked Data

dbSNP Id: rs1455250192

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442345G>C , CM000666.2:g.177442345G>C GRCh38
NC_000004.11:g.178363499G>C , CM000666.1:g.178363499G>C GRCh37
NC_000004.10:g.178600493G>C NCBI36
NG_011845.2:g.5159C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.31C>G MANE Select ENSP00000264595.2:p.Leu11Val
ENST00000264595.6:c.31C>G ENSP00000264595.2:p.Leu11Val
ENST00000506853.5:n.65C>G
ENST00000510955.5:n.65C>G
ENST00000511231.1:n.65C>G
NM_000027.3:c.31C>G NP_000018.2:p.Leu11Val
NM_001171988.1:c.31C>G NP_001165459.1:p.Leu11Val
NR_033655.1:n.159C>G
XM_006714123.2:c.31C>G XP_006714186.1:p.Leu11Val
XR_001741155.2:n.125C>G
NM_000027.4:c.31C>G MANE Select NP_000018.2:p.Leu11Val
NM_001171988.2:c.31C>G NP_001165459.1:p.Leu11Val
NR_033655.2:n.93C>G