Canonical Allele Identifier: CA8814930

Gene: GAA

Linked Data

• ClinVar Variation Id: 1013770
• ClinVar RCV Id: RCV001312414 ; RCV003145549
• dbSNP Id: rs528367092
• ExAC: 17:78079570 G / T
• gnomAD v2: 17-78079570-G-T
• gnomAD v3: 17-80105771-G-T
• gnomAD v4: 17-80105771-G-T
• MyVariant Identifiers: chr17:g.78079570G>T (hg19) ; chr17:g.80105771G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80105771G>T , CM000679.2:g.80105771G>T	GRCh38
NC_000017.10:g.78079570G>T , CM000679.1:g.78079570G>T	GRCh37
NC_000017.9:g.75694165G>T	NCBI36
NG_009822.1:g.9216G>T , LRG_673:g.9216G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000570803.6:c.569G>T	ENSP00000460543.2:p.Arg190Leu
ENST00000572080.2:c.569G>T	ENSP00000459972.2:p.Arg190Leu
ENST00000577106.6:c.569G>T	ENSP00000458306.2:p.Arg190Leu
ENST00000302262.8:c.569G>T MANE Select	ENSP00000305692.3:p.Arg190Leu
ENST00000302262.7:c.569G>T	ENSP00000305692.3:p.Arg190Leu
ENST00000390015.7:c.569G>T	ENSP00000374665.3:p.Arg190Leu
ENST00000570803.5:c.569G>T	ENSP00000460543.1:p.Arg190Leu
ENST00000577106.5:c.569G>T	ENSP00000458306.1:p.Arg190Leu
NM_000152.3:c.569G>T , LRG_673t1:c.569G>T	NP_000143.2:p.Arg190Leu
NM_001079803.1:c.569G>T	NP_001073271.1:p.Arg190Leu
NM_001079804.1:c.569G>T	NP_001073272.1:p.Arg190Leu
XM_005257193.1:c.569G>T	XP_005257250.1:p.Arg190Leu
XM_005257194.3:c.569G>T	XP_005257251.1:p.Arg190Leu
NM_000152.4:c.569G>T	NP_000143.2:p.Arg190Leu
NM_001079803.2:c.569G>T	NP_001073271.1:p.Arg190Leu
NM_001079804.2:c.569G>T	NP_001073272.1:p.Arg190Leu
XM_005257193.2:c.569G>T	XP_005257250.1:p.Arg190Leu
XM_005257194.4:c.569G>T	XP_005257251.1:p.Arg190Leu
NM_000152.5:c.569G>T MANE Select	NP_000143.2:p.Arg190Leu
NM_001079803.3:c.569G>T	NP_001073271.1:p.Arg190Leu
NM_001079804.3:c.569G>T	NP_001073272.1:p.Arg190Leu