Canonical Allele Identifier: CA8815085

Gene: GAA

Linked Data

• ClinVar Variation Id: 285649
• ClinVar RCV Id: RCV000318999 ; RCV001239039 ; RCV004021182
• dbSNP Id: rs140301384
• ExAC: 17:78081650 G / A
• gnomAD v2: 17-78081650-G-A
• gnomAD v3: 17-80107851-G-A
• gnomAD v4: 17-80107851-G-A
• MyVariant Identifiers: chr17:g.78081650G>A (hg19) ; chr17:g.80107851G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80107851G>A , CM000679.2:g.80107851G>A	GRCh38
NC_000017.10:g.78081650G>A , CM000679.1:g.78081650G>A	GRCh37
NC_000017.9:g.75696245G>A	NCBI36
NG_009822.1:g.11296G>A , LRG_673:g.11296G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.910G>A	ENSP00000460543.2:p.Gly304Ser
ENST00000572080.2:c.910G>A	ENSP00000459972.2:p.Gly304Ser
ENST00000577106.6:c.910G>A	ENSP00000458306.2:p.Gly304Ser
ENST00000302262.8:c.910G>A MANE Select	ENSP00000305692.3:p.Gly304Ser
ENST00000302262.7:c.910G>A	ENSP00000305692.3:p.Gly304Ser
ENST00000390015.7:c.910G>A	ENSP00000374665.3:p.Gly304Ser
NM_000152.3:c.910G>A , LRG_673t1:c.910G>A	NP_000143.2:p.Gly304Ser
NM_001079803.1:c.910G>A	NP_001073271.1:p.Gly304Ser
NM_001079804.1:c.910G>A	NP_001073272.1:p.Gly304Ser
XM_005257193.1:c.910G>A	XP_005257250.1:p.Gly304Ser
XM_005257194.3:c.910G>A	XP_005257251.1:p.Gly304Ser
NM_000152.4:c.910G>A	NP_000143.2:p.Gly304Ser
NM_001079803.2:c.910G>A	NP_001073271.1:p.Gly304Ser
NM_001079804.2:c.910G>A	NP_001073272.1:p.Gly304Ser
XM_005257193.2:c.910G>A	XP_005257250.1:p.Gly304Ser
XM_005257194.4:c.910G>A	XP_005257251.1:p.Gly304Ser
NM_000152.5:c.910G>A MANE Select	NP_000143.2:p.Gly304Ser
NM_001079803.3:c.910G>A	NP_001073271.1:p.Gly304Ser
NM_001079804.3:c.910G>A	NP_001073272.1:p.Gly304Ser