Canonical Allele Identifier: CA358784392
Gene: AGA HGNC NCBI

Linked Data

dbSNP Id: rs1560950756
gnomAD v2: 4-178361506-G-C
gnomAD v4: 4-177440352-G-C
MyVariant Identifiers: chr4:g.178361506G>C (hg19) chr4:g.178361506_178361510delinsCCTCT (hg19) chr4:g.177440352G>C (hg38) chr4:g.177440352_177440356delinsCCTCT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177440352G>C , CM000666.2:g.177440352G>C GRCh38
NC_000004.11:g.178361506G>C , CM000666.1:g.178361506G>C GRCh37
NC_000004.10:g.178598500G>C NCBI36
NG_011845.2:g.7152C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000264595.7:c.202C>G MANE Select ENSP00000264595.2:p.Gln68Glu
ENST00000264595.6:c.202C>G ENSP00000264595.2:p.Gln68Glu
ENST00000506853.5:n.236C>G
ENST00000510955.5:n.236C>G
ENST00000511231.1:n.236C>G
NM_000027.3:c.202C>G NP_000018.2:p.Gln68Glu
NM_001171988.1:c.202C>G NP_001165459.1:p.Gln68Glu
NR_033655.1:n.330C>G
XM_006714123.2:c.202C>G XP_006714186.1:p.Gln68Glu
XR_001741155.2:n.296C>G
NM_000027.4:c.202C>G MANE Select NP_000018.2:p.Gln68Glu
NM_001171988.2:c.202C>G NP_001165459.1:p.Gln68Glu
NR_033655.2:n.264C>G
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