Canonical Allele Identifier: CA8814828

Gene: GAA

Linked Data

• ClinVar Variation Id: 325776
• ClinVar RCV Id: RCV000399666 ; RCV000595797 ; RCV001508997 ; RCV003912356
• dbSNP Id: rs2229222
• ExAC: 17:78078642 C / G
• gnomAD v2: 17-78078642-C-G
• gnomAD v3: 17-80104843-C-G
• gnomAD v4: 17-80104843-C-G
• MyVariant Identifiers: chr17:g.78078642C>G (hg19) ; chr17:g.80104843C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80104843C>G , CM000679.2:g.80104843C>G	GRCh38
NC_000017.10:g.78078642C>G , CM000679.1:g.78078642C>G	GRCh37
NC_000017.9:g.75693237C>G	NCBI36
NG_009822.1:g.8288C>G , LRG_673:g.8288C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.257C>G	ENSP00000460543.2:p.Pro86Arg
ENST00000572080.2:c.257C>G	ENSP00000459972.2:p.Pro86Arg
ENST00000577106.6:c.257C>G	ENSP00000458306.2:p.Pro86Arg
ENST00000302262.8:c.257C>G MANE Select	ENSP00000305692.3:p.Pro86Arg
ENST00000302262.7:c.257C>G	ENSP00000305692.3:p.Pro86Arg
ENST00000390015.7:c.257C>G	ENSP00000374665.3:p.Pro86Arg
ENST00000570803.5:c.257C>G	ENSP00000460543.1:p.Pro86Arg
ENST00000577106.5:c.257C>G	ENSP00000458306.1:p.Pro86Arg
NM_000152.3:c.257C>G , LRG_673t1:c.257C>G	NP_000143.2:p.Pro86Arg
NM_001079803.1:c.257C>G	NP_001073271.1:p.Pro86Arg
NM_001079804.1:c.257C>G	NP_001073272.1:p.Pro86Arg
XM_005257193.1:c.257C>G	XP_005257250.1:p.Pro86Arg
XM_005257194.3:c.257C>G	XP_005257251.1:p.Pro86Arg
NM_000152.4:c.257C>G	NP_000143.2:p.Pro86Arg
NM_001079803.2:c.257C>G	NP_001073271.1:p.Pro86Arg
NM_001079804.2:c.257C>G	NP_001073272.1:p.Pro86Arg
XM_005257193.2:c.257C>G	XP_005257250.1:p.Pro86Arg
XM_005257194.4:c.257C>G	XP_005257251.1:p.Pro86Arg
NM_000152.5:c.257C>G MANE Select	NP_000143.2:p.Pro86Arg
NM_001079803.3:c.257C>G	NP_001073271.1:p.Pro86Arg
NM_001079804.3:c.257C>G	NP_001073272.1:p.Pro86Arg