Canonical Allele Identifier: CA294884377
Gene: GAA HGNC NCBI

Linked Data

dbSNP Id: rs1003931341
gnomAD v2: 17-78075325-G-C
gnomAD v3: 17-80101526-G-C
gnomAD v4: 17-80101526-G-C
MyVariant Identifiers: chr17:g.78075325G>C (hg19) chr17:g.80101526G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80101526G>C , CM000679.2:g.80101526G>C GRCh38
NC_000017.10:g.78075325G>C , CM000679.1:g.78075325G>C GRCh37
NC_000017.9:g.75689920G>C NCBI36
NG_009822.1:g.4971G>C , LRG_673:g.4971G>C
NG_029761.1:g.69895G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000152.4:c.-397G>C NP_000143.2:n.-397G>C
NM_001079803.2:c.-212G>C NP_001073271.1:n.-212G>C
NM_001079804.2:c.-132G>C NP_001073272.1:n.-132G>C
NR_134848.1:n.1G>C
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