Canonical Allele Identifier: CA358782252
Gene: AGA HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.178355588C>T (hg19) chr4:g.177434434C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177434434C>T , CM000666.2:g.177434434C>T GRCh38
NC_000004.11:g.178355588C>T , CM000666.1:g.178355588C>T GRCh37
NC_000004.10:g.178592582C>T NCBI36
NG_011845.2:g.13070G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264595.7:c.754G>A MANE Select ENSP00000264595.2:p.Gly252Arg
ENST00000264595.6:c.754G>A ENSP00000264595.2:p.Gly252Arg
ENST00000502310.5:c.325G>A ENSP00000423798.1:p.Gly109Arg
ENST00000506853.5:n.712G>A
NM_000027.3:c.754G>A NP_000018.2:p.Gly252Arg
NM_001171988.1:c.724G>A NP_001165459.1:p.Gly242Arg
NR_033655.1:n.806G>A
XM_006714123.2:c.*48G>A XP_006714186.1:n.*48G>A
XR_001741155.2:n.826G>A
NM_000027.4:c.754G>A MANE Select NP_000018.2:p.Gly252Arg
NM_001171988.2:c.724G>A NP_001165459.1:p.Gly242Arg
NR_033655.2:n.740G>A
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