Canonical Allele Identifier: CA273686

Gene: GAA

Linked Data

• ClinVar Variation Id: 180144
• ClinVar RCV Id: RCV000156941 ; RCV001310382
• dbSNP Id: rs121907940
• gnomAD v4: 17-80107837-T-C
• MyVariant Identifiers: chr17:g.78081636T>C (hg19) ; chr17:g.80107837T>C (hg38)
• ERepo: CA273686/MONDO:0009290/010

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80107837T>C , CM000679.2:g.80107837T>C	GRCh38
NC_000017.10:g.78081636T>C , CM000679.1:g.78081636T>C	GRCh37
NC_000017.9:g.75696231T>C	NCBI36
NG_009822.1:g.11282T>C , LRG_673:g.11282T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000570803.6:c.896T>C	ENSP00000460543.2:p.Leu299Pro
ENST00000572080.2:c.896T>C	ENSP00000459972.2:p.Leu299Pro
ENST00000577106.6:c.896T>C	ENSP00000458306.2:p.Leu299Pro
ENST00000302262.8:c.896T>C MANE Select	ENSP00000305692.3:p.Leu299Pro
ENST00000302262.7:c.896T>C	ENSP00000305692.3:p.Leu299Pro
ENST00000390015.7:c.896T>C	ENSP00000374665.3:p.Leu299Pro
NM_000152.3:c.896T>C , LRG_673t1:c.896T>C	NP_000143.2:p.Leu299Pro
NM_001079803.1:c.896T>C	NP_001073271.1:p.Leu299Pro
NM_001079804.1:c.896T>C	NP_001073272.1:p.Leu299Pro
XM_005257193.1:c.896T>C	XP_005257250.1:p.Leu299Pro
XM_005257194.3:c.896T>C	XP_005257251.1:p.Leu299Pro
NM_000152.4:c.896T>C	NP_000143.2:p.Leu299Pro
NM_001079803.2:c.896T>C	NP_001073271.1:p.Leu299Pro
NM_001079804.2:c.896T>C	NP_001073272.1:p.Leu299Pro
XM_005257193.2:c.896T>C	XP_005257250.1:p.Leu299Pro
XM_005257194.4:c.896T>C	XP_005257251.1:p.Leu299Pro
NM_000152.5:c.896T>C MANE Select	NP_000143.2:p.Leu299Pro
NM_001079803.3:c.896T>C	NP_001073271.1:p.Leu299Pro
NM_001079804.3:c.896T>C	NP_001073272.1:p.Leu299Pro