Canonical Allele Identifier: CA8815597

Gene: GAA

Linked Data

• ClinVar Variation Id: 1100022
• ClinVar RCV Id: RCV001422500
• dbSNP Id: rs764174168
• ExAC: 17:78087019 C / A
• gnomAD v2: 17-78087019-C-A
• gnomAD v3: 17-80113220-C-A
• gnomAD v4: 17-80113220-C-A
• MyVariant Identifiers: chr17:g.78087019C>A (hg19) ; chr17:g.80113220C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80113220C>A , CM000679.2:g.80113220C>A	GRCh38
NC_000017.10:g.78087019C>A , CM000679.1:g.78087019C>A	GRCh37
NC_000017.9:g.75701614C>A	NCBI36
NG_009822.1:g.16665C>A , LRG_673:g.16665C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.2043C>A	ENSP00000460543.2:p.Pro681=
ENST00000572080.2:c.*181C>A	ENSP00000459972.2:n.*181C>A
ENST00000577106.6:c.2043C>A	ENSP00000458306.2:p.Pro681=
ENST00000302262.8:c.2043C>A MANE Select	ENSP00000305692.3:p.Pro681=
ENST00000302262.7:c.2043C>A	ENSP00000305692.3:p.Pro681=
ENST00000390015.7:c.2043C>A	ENSP00000374665.3:p.Pro681=
ENST00000570716.1:n.483C>A
ENST00000572080.1:c.462C>A
NM_000152.3:c.2043C>A , LRG_673t1:c.2043C>A	NP_000143.2:p.Pro681=
NM_001079803.1:c.2043C>A	NP_001073271.1:p.Pro681=
NM_001079804.1:c.2043C>A	NP_001073272.1:p.Pro681=
XM_005257193.1:c.2043C>A	XP_005257250.1:p.Pro681=
XM_005257194.3:c.2043C>A	XP_005257251.1:p.Pro681=
NM_000152.4:c.2043C>A	NP_000143.2:p.Pro681=
NM_001079803.2:c.2043C>A	NP_001073271.1:p.Pro681=
NM_001079804.2:c.2043C>A	NP_001073272.1:p.Pro681=
XM_005257193.2:c.2043C>A	XP_005257250.1:p.Pro681=
XM_005257194.4:c.2043C>A	XP_005257251.1:p.Pro681=
NM_000152.5:c.2043C>A MANE Select	NP_000143.2:p.Pro681=
NM_001079803.3:c.2043C>A	NP_001073271.1:p.Pro681=
NM_001079804.3:c.2043C>A	NP_001073272.1:p.Pro681=