Canonical Allele Identifier: CA16043014

Gene: GAA

Linked Data

• ClinVar Variation Id: 372968
• ClinVar RCV Id: RCV000414717 ; RCV001200860
• dbSNP Id: rs1057518106
• MyVariant Identifiers: chr17:g.78086747C>A (hg19) ; chr17:g.80112948C>A (hg38)
• ERepo: CA16043014/MONDO:0009290/010

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80112948C>A , CM000679.2:g.80112948C>A	GRCh38
NC_000017.10:g.78086747C>A , CM000679.1:g.78086747C>A	GRCh37
NC_000017.9:g.75701342C>A	NCBI36
NG_009822.1:g.16393C>A , LRG_673:g.16393C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.1961C>A	ENSP00000460543.2:p.Ser654Ter
ENST00000572080.2:c.*99C>A	ENSP00000459972.2:n.*99C>A
ENST00000577106.6:c.1961C>A	ENSP00000458306.2:p.Ser654Ter
ENST00000302262.8:c.1961C>A MANE Select	ENSP00000305692.3:p.Ser654Ter
ENST00000302262.7:c.1961C>A	ENSP00000305692.3:p.Ser654Ter
ENST00000390015.7:c.1961C>A	ENSP00000374665.3:p.Ser654Ter
ENST00000570716.1:n.401C>A
ENST00000572080.1:c.380C>A
ENST00000572803.1:n.575C>A
NM_000152.3:c.1961C>A , LRG_673t1:c.1961C>A	NP_000143.2:p.Ser654Ter
NM_001079803.1:c.1961C>A	NP_001073271.1:p.Ser654Ter
NM_001079804.1:c.1961C>A	NP_001073272.1:p.Ser654Ter
XM_005257193.1:c.1961C>A	XP_005257250.1:p.Ser654Ter
XM_005257194.3:c.1961C>A	XP_005257251.1:p.Ser654Ter
NM_000152.4:c.1961C>A	NP_000143.2:p.Ser654Ter
NM_001079803.2:c.1961C>A	NP_001073271.1:p.Ser654Ter
NM_001079804.2:c.1961C>A	NP_001073272.1:p.Ser654Ter
XM_005257193.2:c.1961C>A	XP_005257250.1:p.Ser654Ter
XM_005257194.4:c.1961C>A	XP_005257251.1:p.Ser654Ter
NM_000152.5:c.1961C>A MANE Select	NP_000143.2:p.Ser654Ter
NM_001079803.3:c.1961C>A	NP_001073271.1:p.Ser654Ter
NM_001079804.3:c.1961C>A	NP_001073272.1:p.Ser654Ter