Canonical Allele Identifier: CA627697930

Gene: GAA

Linked Data

• dbSNP Id: rs1223220071
• gnomAD v2: 17-78075460-G-C
• gnomAD v3: 17-80101661-G-C
• gnomAD v4: 17-80101661-G-C
• MyVariant Identifiers: chr17:g.78075460G>C (hg19) ; chr17:g.80101661G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80101661G>C , CM000679.2:g.80101661G>C	GRCh38
NC_000017.10:g.78075460G>C , CM000679.1:g.78075460G>C	GRCh37
NC_000017.9:g.75690055G>C	NCBI36
NG_009822.1:g.5106G>C , LRG_673:g.5106G>C
NG_029761.1:g.70030G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000570803.6:c.-33+36G>C	ENSP00000460543.2:n.-33+36G>C
ENST00000572080.2:c.-113+36G>C	ENSP00000459972.2:n.-113+36G>C
ENST00000577106.6:c.-148+36G>C	ENSP00000458306.2:n.-148+36G>C
ENST00000302262.8:c.-262G>C MANE Select	ENSP00000305692.3:n.-262G>C
ENST00000390015.7:c.-113+36G>C	ENSP00000374665.3:n.-113+36G>C
ENST00000570803.5:c.-33+36G>C	ENSP00000460543.1:n.-33+36G>C
ENST00000574376.1:n.29+36G>C
ENST00000577106.5:c.-148+36G>C	ENSP00000458306.1:n.-148+36G>C
NM_000152.3:c.-262G>C , LRG_673t1:c.-262G>C	NP_000143.2:n.-262G>C
NM_001079803.1:c.-113+36G>C	NP_001073271.1:n.-113+36G>C
NM_001079804.1:c.-33+36G>C	NP_001073272.1:n.-33+36G>C
XM_005257193.1:c.-172G>C	XP_005257250.1:n.-172G>C
XM_005257194.3:c.-148+36G>C	XP_005257251.1:n.-148+36G>C
NM_000152.4:c.-262G>C	NP_000143.2:n.-262G>C
NM_001079803.2:c.-113+36G>C	NP_001073271.1:n.-113+36G>C
NM_001079804.2:c.-33+36G>C	NP_001073272.1:n.-33+36G>C
NR_134848.1:n.100+36G>C
XM_005257193.2:c.-172G>C	XP_005257250.1:n.-172G>C
XM_005257194.4:c.-148+36G>C	XP_005257251.1:n.-148+36G>C
NM_000152.5:c.-262G>C MANE Select	NP_000143.2:n.-262G>C
NM_001079803.3:c.-113+36G>C	NP_001073271.1:n.-113+36G>C
NM_001079804.3:c.-33+36G>C	NP_001073272.1:n.-33+36G>C
NR_134848.2:n.45+36G>C