Canonical Allele Identifier: CA401324769

Gene: GAA

Linked Data

• ClinVar Variation Id: 499293
• ClinVar RCV Id: RCV000598534 ; RCV000726989
• dbSNP Id: rs1479740763
• gnomAD v4: 17-80117014-T-C
• MyVariant Identifiers: chr17:g.78090813T>C (hg19) ; chr17:g.80117014T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80117014T>C , CM000679.2:g.80117014T>C	GRCh38
NC_000017.10:g.78090813T>C , CM000679.1:g.78090813T>C	GRCh37
NC_000017.9:g.75705408T>C	NCBI36
NG_009822.1:g.20459T>C , LRG_673:g.20459T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.2236T>C	ENSP00000460543.2:p.Trp746Arg
ENST00000572080.2:c.*374T>C	ENSP00000459972.2:n.*374T>C
ENST00000577106.6:c.2236T>C	ENSP00000458306.2:p.Trp746Arg
ENST00000302262.8:c.2236T>C MANE Select	ENSP00000305692.3:p.Trp746Arg
ENST00000302262.7:c.2236T>C	ENSP00000305692.3:p.Trp746Arg
ENST00000390015.7:c.2236T>C	ENSP00000374665.3:p.Trp746Arg
ENST00000572080.1:c.655T>C
ENST00000573556.1:n.189T>C
NM_000152.3:c.2236T>C , LRG_673t1:c.2236T>C	NP_000143.2:p.Trp746Arg
NM_001079803.1:c.2236T>C	NP_001073271.1:p.Trp746Arg
NM_001079804.1:c.2236T>C	NP_001073272.1:p.Trp746Arg
XM_005257193.1:c.2236T>C	XP_005257250.1:p.Trp746Arg
XM_005257194.3:c.2236T>C	XP_005257251.1:p.Trp746Arg
NM_000152.4:c.2236T>C	NP_000143.2:p.Trp746Arg
NM_001079803.2:c.2236T>C	NP_001073271.1:p.Trp746Arg
NM_001079804.2:c.2236T>C	NP_001073272.1:p.Trp746Arg
XM_005257193.2:c.2236T>C	XP_005257250.1:p.Trp746Arg
XM_005257194.4:c.2236T>C	XP_005257251.1:p.Trp746Arg
NM_000152.5:c.2236T>C MANE Select	NP_000143.2:p.Trp746Arg
NM_001079803.3:c.2236T>C	NP_001073271.1:p.Trp746Arg
NM_001079804.3:c.2236T>C	NP_001073272.1:p.Trp746Arg