Canonical Allele Identifier: CA393061471

Gene: HEXA

Linked Data

• ClinVar Variation Id: 2168900
• ClinVar RCV Id: RCV003082801
• gnomAD v4: 15-72346705-C-G
• MyVariant Identifiers: chr15:g.72639046C>G (hg19) ; chr15:g.72346705C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346705C>G , CM000677.2:g.72346705C>G	GRCh38
NC_000015.9:g.72639046C>G , CM000677.1:g.72639046C>G	GRCh37
NC_000015.8:g.70426100C>G	NCBI36
NG_009017.1:g.34475G>C
NG_009017.2:g.34475G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.1074-380G>C	ENSP00000457521.2:n.1074-380G>C
ENST00000682061.1:c.*814G>C	ENSP00000508316.1:n.*814G>C
ENST00000682064.1:n.494G>C
ENST00000682177.1:c.1195G>C	ENSP00000507409.1:n.1195G>C
ENST00000682235.1:n.491G>C
ENST00000682461.1:c.1258G>C	ENSP00000507308.1:n.1258G>C
ENST00000682653.1:n.1472G>C
ENST00000682657.1:c.*484-380G>C	ENSP00000507753.1:n.*484-380G>C
ENST00000682721.1:c.*955G>C	ENSP00000507535.1:n.*955G>C
ENST00000682843.1:c.*972-380G>C	ENSP00000508173.1:n.*972-380G>C
ENST00000683003.1:c.*484-380G>C	ENSP00000507576.1:n.*484-380G>C
ENST00000683133.1:c.1336G>C	ENSP00000508108.1:n.1336G>C
ENST00000683243.1:c.*484-380G>C	ENSP00000507042.1:n.*484-380G>C
ENST00000683463.1:c.1079G>C	ENSP00000507986.1:p.Ser360Thr
ENST00000683548.1:n.1105-380G>C
ENST00000683579.1:c.*1050G>C	ENSP00000506867.1:n.*1050G>C
ENST00000683587.1:n.1178-380G>C
ENST00000683681.1:c.1152G>C	ENSP00000508110.1:p.Gln384His
ENST00000683735.1:c.*1045-380G>C	ENSP00000508336.1:n.*1045-380G>C
ENST00000683853.1:c.1079G>C	ENSP00000506834.1:p.Ser360Thr
ENST00000683860.1:c.1152G>C	ENSP00000507179.1:p.Gln384His
ENST00000683884.1:c.1147-380G>C	ENSP00000507004.1:n.1147-380G>C
ENST00000684041.1:c.1152G>C	ENSP00000508382.1:p.Gln384His
ENST00000684125.1:c.1074-380G>C	ENSP00000507320.1:n.1074-380G>C
ENST00000684203.1:n.2917G>C
ENST00000684231.1:c.*562G>C	ENSP00000507748.1:n.*562G>C
ENST00000684263.1:c.*92G>C	ENSP00000508369.1:n.*92G>C
ENST00000684305.1:c.1600G>C	ENSP00000506819.1:n.1600G>C
ENST00000684415.1:c.*19G>C	ENSP00000507227.1:n.*19G>C
ENST00000684520.1:c.1152G>C	ENSP00000506826.1:p.Gln384His
ENST00000684602.1:c.*818G>C	ENSP00000507996.1:n.*818G>C
ENST00000684667.1:c.1483G>C	ENSP00000507003.1:n.1483G>C
ENST00000268097.10:c.1152G>C MANE Select	ENSP00000268097.6:p.Gln384His
ENST00000268097.9:c.1152G>C	ENSP00000268097.5:p.Gln384His
ENST00000379915.4:c.413-380G>C	ENSP00000478716.1:n.413-380G>C
ENST00000563762.5:c.826-380G>C	ENSP00000456346.1:n.826-380G>C
ENST00000566304.5:c.1185G>C	ENSP00000455114.1:p.Gln395His
ENST00000566672.5:c.*562G>C	ENSP00000457037.1:n.*562G>C
ENST00000567027.5:c.946-380G>C
ENST00000567159.5:c.1152G>C	ENSP00000456489.1:p.Gln384His
ENST00000567411.5:c.*673G>C	ENSP00000455545.1:n.*673G>C
ENST00000568777.5:n.6551-380G>C
ENST00000569410.5:c.1079G>C	ENSP00000457125.1:p.Ser360Thr
NM_000520.4:c.1152G>C	NP_000511.2:p.Gln384His
NM_000520.5:c.1152G>C	NP_000511.2:p.Gln384His
NM_001318825.1:c.1185G>C	NP_001305754.1:p.Gln395His
NR_134869.1:n.1575-380G>C
NM_000520.6:c.1152G>C MANE Select	NP_000511.2:p.Gln384His
NM_001318825.2:c.1185G>C	NP_001305754.1:p.Gln395His
NR_134869.2:n.1116-380G>C
NR_134869.3:n.1116-380G>C