Canonical Allele Identifier: CA8815072

Gene: GAA

Linked Data

• ClinVar Variation Id: 284775
• ClinVar RCV Id: RCV001080117 ; RCV001192851 ; RCV002446521 ; RCV000274967
• dbSNP Id: rs778580823
• ExAC: 17:78081601 C / T
• gnomAD v2: 17-78081601-C-T
• gnomAD v3: 17-80107802-C-T
• gnomAD v4: 17-80107802-C-T
• MyVariant Identifiers: chr17:g.78081601C>T (hg19) ; chr17:g.80107802C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80107802C>T , CM000679.2:g.80107802C>T	GRCh38
NC_000017.10:g.78081601C>T , CM000679.1:g.78081601C>T	GRCh37
NC_000017.9:g.75696196C>T	NCBI36
NG_009822.1:g.11247C>T , LRG_673:g.11247C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.861C>T	ENSP00000460543.2:p.Pro287=
ENST00000572080.2:c.861C>T	ENSP00000459972.2:p.Pro287=
ENST00000577106.6:c.861C>T	ENSP00000458306.2:p.Pro287=
ENST00000302262.8:c.861C>T MANE Select	ENSP00000305692.3:p.Pro287=
ENST00000302262.7:c.861C>T	ENSP00000305692.3:p.Pro287=
ENST00000390015.7:c.861C>T	ENSP00000374665.3:p.Pro287=
NM_000152.3:c.861C>T , LRG_673t1:c.861C>T	NP_000143.2:p.Pro287=
NM_001079803.1:c.861C>T	NP_001073271.1:p.Pro287=
NM_001079804.1:c.861C>T	NP_001073272.1:p.Pro287=
XM_005257193.1:c.861C>T	XP_005257250.1:p.Pro287=
XM_005257194.3:c.861C>T	XP_005257251.1:p.Pro287=
NM_000152.4:c.861C>T	NP_000143.2:p.Pro287=
NM_001079803.2:c.861C>T	NP_001073271.1:p.Pro287=
NM_001079804.2:c.861C>T	NP_001073272.1:p.Pro287=
XM_005257193.2:c.861C>T	XP_005257250.1:p.Pro287=
XM_005257194.4:c.861C>T	XP_005257251.1:p.Pro287=
NM_000152.5:c.861C>T MANE Select	NP_000143.2:p.Pro287=
NM_001079803.3:c.861C>T	NP_001073271.1:p.Pro287=
NM_001079804.3:c.861C>T	NP_001073272.1:p.Pro287=