Canonical Allele Identifier: CA116606

Gene: GAA

Linked Data

• ClinVar Variation Id: 4027
• ClinVar RCV Id: RCV000004242 ; RCV000055770 ; RCV000153285 ; RCV000626740 ; RCV002225068 ; RCV002321471 ; RCV002288463 ; RCV003415646
• dbSNP Id: rs386834236
• ExAC: 17:78078341 T / G
• gnomAD v2: 17-78078341-T-G
• gnomAD v3: 17-80104542-T-G
• gnomAD v4: 17-80104542-T-G
• MyVariant Identifiers: chr17:g.78078341T>G (hg19) ; chr17:g.80104542T>G (hg38)
• PubMed: PMID:3132435 ; PMID:7717400 ; PMID:7881425 ; PMID:8558570 ; PMID:8990003 ; PMID:12897283 ; PMID:14695532 ; PMID:15985590 ; PMID:16702877 ; PMID:16737883 ; PMID:16917947 ; PMID:17151339 ; PMID:17210890 ; PMID:17616415 ; PMID:17853454 ; PMID:18458862 ; PMID:19542901 ; PMID:20301438 ; PMID:21109266 ; PMID:21439876 ; PMID:21631931 ; PMID:21757382 ; PMID:23430493 ; PMID:23531252 ; PMID:23891399 ; PMID:24008051 ; PMID:24107549 ; PMID:24150945 ; PMID:25356970 ; PMID:25526786 ; PMID:25673129 ; PMID:26231297 ; PMID:27170567 ; PMID:27189384
• ERepo: CA116606/MONDO:0009290/010

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80104542T>G , CM000679.2:g.80104542T>G	GRCh38
NC_000017.10:g.78078341T>G , CM000679.1:g.78078341T>G	GRCh37
NC_000017.9:g.75692936T>G	NCBI36
NG_009822.1:g.7987T>G , LRG_673:g.7987T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.-32-13T>G	ENSP00000460543.2:n.-32-13T>G
ENST00000572080.2:c.-32-13T>G	ENSP00000459972.2:n.-32-13T>G
ENST00000577106.6:c.-32-13T>G	ENSP00000458306.2:n.-32-13T>G
ENST00000302262.8:c.-32-13T>G MANE Select	ENSP00000305692.3:n.-32-13T>G
ENST00000302262.7:c.-32-13T>G	ENSP00000305692.3:n.-32-13T>G
ENST00000390015.7:c.-32-13T>G	ENSP00000374665.3:n.-32-13T>G
ENST00000570803.5:c.-32-13T>G	ENSP00000460543.1:n.-32-13T>G
ENST00000577106.5:c.-32-13T>G	ENSP00000458306.1:n.-32-13T>G
NM_000152.3:c.-32-13T>G , LRG_673t1:c.-32-13T>G	NP_000143.2:n.-32-13T>G
NM_001079803.1:c.-32-13T>G	NP_001073271.1:n.-32-13T>G
NM_001079804.1:c.-32-13T>G	NP_001073272.1:n.-32-13T>G
XM_005257193.1:c.-32-13T>G	XP_005257250.1:n.-32-13T>G
XM_005257194.3:c.-32-13T>G	XP_005257251.1:n.-32-13T>G
NM_000152.4:c.-32-13T>G	NP_000143.2:n.-32-13T>G
NM_001079803.2:c.-32-13T>G	NP_001073271.1:n.-32-13T>G
NM_001079804.2:c.-32-13T>G	NP_001073272.1:n.-32-13T>G
XM_005257193.2:c.-32-13T>G	XP_005257250.1:n.-32-13T>G
XM_005257194.4:c.-32-13T>G	XP_005257251.1:n.-32-13T>G
NM_000152.5:c.-32-13T>G MANE Select	NP_000143.2:n.-32-13T>G
NM_001079803.3:c.-32-13T>G	NP_001073271.1:n.-32-13T>G
NM_001079804.3:c.-32-13T>G	NP_001073272.1:n.-32-13T>G