Canonical Allele Identifier: CA393061181

Gene: HEXA

Linked Data

• ClinVar Variation Id: 2141657
• ClinVar RCV Id: RCV003060421
• gnomAD v4: 15-72346659-A-G
• MyVariant Identifiers: chr15:g.72639000A>G (hg19) ; chr15:g.72346659A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346659A>G , CM000677.2:g.72346659A>G	GRCh38
NC_000015.9:g.72639000A>G , CM000677.1:g.72639000A>G	GRCh37
NC_000015.8:g.70426054A>G	NCBI36
NG_009017.1:g.34521T>C
NG_009017.2:g.34521T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1074-334T>C	ENSP00000457521.2:n.1074-334T>C
ENST00000682061.1:c.*860T>C	ENSP00000508316.1:n.*860T>C
ENST00000682064.1:n.540T>C
ENST00000682177.1:c.1241T>C	ENSP00000507409.1:n.1241T>C
ENST00000682235.1:n.537T>C
ENST00000682461.1:c.1304T>C	ENSP00000507308.1:n.1304T>C
ENST00000682653.1:n.1518T>C
ENST00000682657.1:c.*484-334T>C	ENSP00000507753.1:n.*484-334T>C
ENST00000682721.1:c.*1001T>C	ENSP00000507535.1:n.*1001T>C
ENST00000682843.1:c.*972-334T>C	ENSP00000508173.1:n.*972-334T>C
ENST00000683003.1:c.*484-334T>C	ENSP00000507576.1:n.*484-334T>C
ENST00000683133.1:c.1382T>C	ENSP00000508108.1:n.1382T>C
ENST00000683243.1:c.*484-334T>C	ENSP00000507042.1:n.*484-334T>C
ENST00000683463.1:c.*3T>C	ENSP00000507986.1:n.*3T>C
ENST00000683548.1:n.1105-334T>C
ENST00000683579.1:c.*1096T>C	ENSP00000506867.1:n.*1096T>C
ENST00000683587.1:n.1178-334T>C
ENST00000683681.1:c.1198T>C	ENSP00000508110.1:p.Tyr400His
ENST00000683735.1:c.*1045-334T>C	ENSP00000508336.1:n.*1045-334T>C
ENST00000683853.1:c.*3T>C	ENSP00000506834.1:n.*3T>C
ENST00000683860.1:c.1198T>C	ENSP00000507179.1:p.Tyr400His
ENST00000683884.1:c.1147-334T>C	ENSP00000507004.1:n.1147-334T>C
ENST00000684041.1:c.1198T>C	ENSP00000508382.1:p.Tyr400His
ENST00000684125.1:c.1074-334T>C	ENSP00000507320.1:n.1074-334T>C
ENST00000684203.1:n.2963T>C
ENST00000684231.1:c.*608T>C	ENSP00000507748.1:n.*608T>C
ENST00000684263.1:c.*138T>C	ENSP00000508369.1:n.*138T>C
ENST00000684305.1:c.1646T>C	ENSP00000506819.1:n.1646T>C
ENST00000684415.1:c.*65T>C	ENSP00000507227.1:n.*65T>C
ENST00000684520.1:c.1198T>C	ENSP00000506826.1:p.Tyr400His
ENST00000684602.1:c.*864T>C	ENSP00000507996.1:n.*864T>C
ENST00000684667.1:c.1529T>C	ENSP00000507003.1:n.1529T>C
ENST00000268097.10:c.1198T>C MANE Select	ENSP00000268097.6:p.Tyr400His
ENST00000268097.9:c.1198T>C	ENSP00000268097.5:p.Tyr400His
ENST00000379915.4:c.413-334T>C	ENSP00000478716.1:n.413-334T>C
ENST00000563762.5:c.826-334T>C	ENSP00000456346.1:n.826-334T>C
ENST00000566304.5:c.1231T>C	ENSP00000455114.1:p.Tyr411His
ENST00000566672.5:c.*608T>C	ENSP00000457037.1:n.*608T>C
ENST00000567027.5:c.946-334T>C
ENST00000567159.5:c.1198T>C	ENSP00000456489.1:p.Tyr400His
ENST00000567411.5:c.*719T>C	ENSP00000455545.1:n.*719T>C
ENST00000568777.5:n.6551-334T>C
ENST00000569410.5:c.*3T>C	ENSP00000457125.1:n.*3T>C
NM_000520.4:c.1198T>C	NP_000511.2:p.Tyr400His
NM_000520.5:c.1198T>C	NP_000511.2:p.Tyr400His
NM_001318825.1:c.1231T>C	NP_001305754.1:p.Tyr411His
NR_134869.1:n.1575-334T>C
NM_000520.6:c.1198T>C MANE Select	NP_000511.2:p.Tyr400His
NM_001318825.2:c.1231T>C	NP_001305754.1:p.Tyr411His
NR_134869.2:n.1116-334T>C
NR_134869.3:n.1116-334T>C