Canonical Allele Identifier: CA294896338

Gene: GAA

Linked Data

• ClinVar Variation Id: 501793
• ClinVar RCV Id: RCV000597451 ; RCV001199859
• dbSNP Id: rs374470794
• gnomAD v4: 17-80112625-C-G
• MyVariant Identifiers: chr17:g.78086424C>G (hg19) ; chr17:g.80112625C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80112625C>G , CM000679.2:g.80112625C>G	GRCh38
NC_000017.10:g.78086424C>G , CM000679.1:g.78086424C>G	GRCh37
NC_000017.9:g.75701019C>G	NCBI36
NG_009822.1:g.16070C>G , LRG_673:g.16070C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.1802C>G	ENSP00000460543.2:p.Ser601Trp
ENST00000572080.2:c.1802C>G	ENSP00000459972.2:p.Ser601Trp
ENST00000577106.6:c.1802C>G	ENSP00000458306.2:p.Ser601Trp
ENST00000302262.8:c.1802C>G MANE Select	ENSP00000305692.3:p.Ser601Trp
ENST00000302262.7:c.1802C>G	ENSP00000305692.3:p.Ser601Trp
ENST00000390015.7:c.1802C>G	ENSP00000374665.3:p.Ser601Trp
ENST00000570716.1:n.242C>G
ENST00000572080.1:c.190C>G
ENST00000572803.1:n.416C>G
NM_000152.3:c.1802C>G , LRG_673t1:c.1802C>G	NP_000143.2:p.Ser601Trp
NM_001079803.1:c.1802C>G	NP_001073271.1:p.Ser601Trp
NM_001079804.1:c.1802C>G	NP_001073272.1:p.Ser601Trp
XM_005257193.1:c.1802C>G	XP_005257250.1:p.Ser601Trp
XM_005257194.3:c.1802C>G	XP_005257251.1:p.Ser601Trp
NM_000152.4:c.1802C>G	NP_000143.2:p.Ser601Trp
NM_001079803.2:c.1802C>G	NP_001073271.1:p.Ser601Trp
NM_001079804.2:c.1802C>G	NP_001073272.1:p.Ser601Trp
XM_005257193.2:c.1802C>G	XP_005257250.1:p.Ser601Trp
XM_005257194.4:c.1802C>G	XP_005257251.1:p.Ser601Trp
NM_000152.5:c.1802C>G MANE Select	NP_000143.2:p.Ser601Trp
NM_001079803.3:c.1802C>G	NP_001073271.1:p.Ser601Trp
NM_001079804.3:c.1802C>G	NP_001073272.1:p.Ser601Trp