Canonical Allele Identifier: CA401370450

Gene: GAA

Linked Data

• dbSNP Id: rs2143895748
• gnomAD v4: 17-80113256-G-C
• MyVariant Identifiers: chr17:g.78087055G>C (hg19) ; chr17:g.80113256G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80113256G>C , CM000679.2:g.80113256G>C	GRCh38
NC_000017.10:g.78087055G>C , CM000679.1:g.78087055G>C	GRCh37
NC_000017.9:g.75701650G>C	NCBI36
NG_009822.1:g.16701G>C , LRG_673:g.16701G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000570803.6:c.2079G>C	ENSP00000460543.2:p.Gln693His
ENST00000572080.2:c.*217G>C	ENSP00000459972.2:n.*217G>C
ENST00000577106.6:c.2079G>C	ENSP00000458306.2:p.Gln693His
ENST00000302262.8:c.2079G>C MANE Select	ENSP00000305692.3:p.Gln693His
ENST00000302262.7:c.2079G>C	ENSP00000305692.3:p.Gln693His
ENST00000390015.7:c.2079G>C	ENSP00000374665.3:p.Gln693His
ENST00000570716.1:n.519G>C
ENST00000572080.1:c.498G>C
NM_000152.3:c.2079G>C , LRG_673t1:c.2079G>C	NP_000143.2:p.Gln693His
NM_001079803.1:c.2079G>C	NP_001073271.1:p.Gln693His
NM_001079804.1:c.2079G>C	NP_001073272.1:p.Gln693His
XM_005257193.1:c.2079G>C	XP_005257250.1:p.Gln693His
XM_005257194.3:c.2079G>C	XP_005257251.1:p.Gln693His
NM_000152.4:c.2079G>C	NP_000143.2:p.Gln693His
NM_001079803.2:c.2079G>C	NP_001073271.1:p.Gln693His
NM_001079804.2:c.2079G>C	NP_001073272.1:p.Gln693His
XM_005257193.2:c.2079G>C	XP_005257250.1:p.Gln693His
XM_005257194.4:c.2079G>C	XP_005257251.1:p.Gln693His
NM_000152.5:c.2079G>C MANE Select	NP_000143.2:p.Gln693His
NM_001079803.3:c.2079G>C	NP_001073271.1:p.Gln693His
NM_001079804.3:c.2079G>C	NP_001073272.1:p.Gln693His