Canonical Allele Identifier: CA8815665

Gene: GAA

Linked Data

• ClinVar Variation Id: 265160
• ClinVar RCV Id: RCV000254988 ; RCV000283919 ; RCV000825562 ; RCV003920023 ; RCV004021024
• dbSNP Id: rs1800312
• ExAC: 17:78090815 G / C
• gnomAD v2: 17-78090815-G-C
• gnomAD v3: 17-80117016-G-C
• gnomAD v4: 17-80117016-G-C
• MyVariant Identifiers: chr17:g.78090815G>C (hg19) ; chr17:g.80117016G>C (hg38)
• ERepo: CA8815665/MONDO:0009290/010
• PubMed: PMID:7981676 ; PMID:9535769 ; PMID:18458862 ; PMID:21757382 ; PMID:23430493 ; PMID:25093132 ; PMID:25526786 ; PMID:27099502

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80117016G>C , CM000679.2:g.80117016G>C	GRCh38
NC_000017.10:g.78090815G>C , CM000679.1:g.78090815G>C	GRCh37
NC_000017.9:g.75705410G>C	NCBI36
NG_009822.1:g.20461G>C , LRG_673:g.20461G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.2238G>C	ENSP00000460543.2:p.Trp746Cys
ENST00000572080.2:c.*376G>C	ENSP00000459972.2:n.*376G>C
ENST00000577106.6:c.2238G>C	ENSP00000458306.2:p.Trp746Cys
ENST00000302262.8:c.2238G>C MANE Select	ENSP00000305692.3:p.Trp746Cys
ENST00000302262.7:c.2238G>C	ENSP00000305692.3:p.Trp746Cys
ENST00000390015.7:c.2238G>C	ENSP00000374665.3:p.Trp746Cys
ENST00000572080.1:c.657G>C
ENST00000573556.1:n.191G>C
NM_000152.3:c.2238G>C , LRG_673t1:c.2238G>C	NP_000143.2:p.Trp746Cys
NM_001079803.1:c.2238G>C	NP_001073271.1:p.Trp746Cys
NM_001079804.1:c.2238G>C	NP_001073272.1:p.Trp746Cys
XM_005257193.1:c.2238G>C	XP_005257250.1:p.Trp746Cys
XM_005257194.3:c.2238G>C	XP_005257251.1:p.Trp746Cys
NM_000152.4:c.2238G>C	NP_000143.2:p.Trp746Cys
NM_001079803.2:c.2238G>C	NP_001073271.1:p.Trp746Cys
NM_001079804.2:c.2238G>C	NP_001073272.1:p.Trp746Cys
XM_005257193.2:c.2238G>C	XP_005257250.1:p.Trp746Cys
XM_005257194.4:c.2238G>C	XP_005257251.1:p.Trp746Cys
NM_000152.5:c.2238G>C MANE Select	NP_000143.2:p.Trp746Cys
NM_001079803.3:c.2238G>C	NP_001073271.1:p.Trp746Cys
NM_001079804.3:c.2238G>C	NP_001073272.1:p.Trp746Cys