Canonical Allele Identifier: CA1515649752
Gene: AGA HGNC NCBI

Linked Data

dbSNP Id: rs1737069226
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442396A>G , CM000666.2:g.177442396A>G GRCh38
NC_000004.11:g.178363550A>G , CM000666.1:g.178363550A>G GRCh37
NC_000004.10:g.178600544A>G NCBI36
NG_011845.2:g.5108T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264595.7:c.-21T>C MANE Select ENSP00000264595.2:n.-21T>C
ENST00000264595.6:c.-21T>C ENSP00000264595.2:n.-21T>C
ENST00000506853.5:n.14T>C
ENST00000510955.5:n.14T>C
ENST00000511231.1:n.14T>C
NM_000027.3:c.-21T>C NP_000018.2:n.-21T>C
NM_001171988.1:c.-21T>C NP_001165459.1:n.-21T>C
NR_033655.1:n.108T>C
XM_006714123.2:c.-21T>C XP_006714186.1:n.-21T>C
XR_001741155.2:n.74T>C
NM_000027.4:c.-21T>C MANE Select NP_000018.2:n.-21T>C
NM_001171988.2:c.-21T>C NP_001165459.1:n.-21T>C
NR_033655.2:n.42T>C
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