Canonical Allele Identifier: CA1071331630
Gene: AGA HGNC NCBI

Linked Data

dbSNP Id: rs1737045705
gnomAD v3: 4-177442152-C-T
gnomAD v4: 4-177442152-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442152C>T , CM000666.2:g.177442152C>T GRCh38
NC_000004.11:g.178363306C>T , CM000666.1:g.178363306C>T GRCh37
NC_000004.10:g.178600300C>T NCBI36
NG_011845.2:g.5352G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264595.7:c.127+97G>A MANE Select ENSP00000264595.2:n.127+97G>A
ENST00000264595.6:c.127+97G>A ENSP00000264595.2:n.127+97G>A
ENST00000506853.5:n.161+97G>A
ENST00000510955.5:n.161+97G>A
ENST00000511231.1:n.161+97G>A
NM_000027.3:c.127+97G>A NP_000018.2:n.127+97G>A
NM_001171988.1:c.127+97G>A NP_001165459.1:n.127+97G>A
NR_033655.1:n.255+97G>A
XM_006714123.2:c.127+97G>A XP_006714186.1:n.127+97G>A
XR_001741155.2:n.221+97G>A
NM_000027.4:c.127+97G>A MANE Select NP_000018.2:n.127+97G>A
NM_001171988.2:c.127+97G>A NP_001165459.1:n.127+97G>A
NR_033655.2:n.189+97G>A
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