Canonical Allele Identifier: CA491114339

Gene: HEXA

Linked Data

• gnomAD v4: 15-72345951-T-G
• MyVariant Identifiers: chr15:g.72638292T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345951T>G , CM000677.2:g.72345951T>G	GRCh38
NC_000015.9:g.72638292T>G , CM000677.1:g.72638292T>G	GRCh37
NC_000015.8:g.70425346T>G	NCBI36
NG_009017.1:g.35229A>C
NG_009017.2:g.35229A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*81+284A>C	ENSP00000457521.2:n.*81+284A>C
ENST00000682061.1:c.*1367A>C	ENSP00000508316.1:n.*1367A>C
ENST00000682064.1:n.1248A>C
ENST00000682177.1:c.1464+284A>C	ENSP00000507409.1:n.1464+284A>C
ENST00000682235.1:n.1044A>C
ENST00000682461.1:c.1527+284A>C	ENSP00000507308.1:n.1527+284A>C
ENST00000682653.1:n.2025A>C
ENST00000682657.1:c.*858A>C	ENSP00000507753.1:n.*858A>C
ENST00000682721.1:c.*1224+284A>C	ENSP00000507535.1:n.*1224+284A>C
ENST00000682843.1:c.*1062+284A>C	ENSP00000508173.1:n.*1062+284A>C
ENST00000683003.1:c.*858A>C	ENSP00000507576.1:n.*858A>C
ENST00000683133.1:c.1605+284A>C	ENSP00000508108.1:n.1605+284A>C
ENST00000683243.1:c.*574+284A>C	ENSP00000507042.1:n.*574+284A>C
ENST00000683463.1:c.*510A>C	ENSP00000507986.1:n.*510A>C
ENST00000683548.1:n.1479A>C
ENST00000683579.1:c.*1319+284A>C	ENSP00000506867.1:n.*1319+284A>C
ENST00000683587.1:n.1552A>C
ENST00000683681.1:c.1422-175A>C	ENSP00000508110.1:n.1422-175A>C
ENST00000683735.1:c.*1419A>C	ENSP00000508336.1:n.*1419A>C
ENST00000683853.1:c.*226+284A>C	ENSP00000506834.1:n.*226+284A>C
ENST00000683860.1:c.*141A>C	ENSP00000507179.1:n.*141A>C
ENST00000683884.1:c.*348A>C	ENSP00000507004.1:n.*348A>C
ENST00000684041.1:c.*280A>C	ENSP00000508382.1:n.*280A>C
ENST00000684125.1:c.*81+284A>C	ENSP00000507320.1:n.*81+284A>C
ENST00000684203.1:n.3470A>C
ENST00000684231.1:c.*831+284A>C	ENSP00000507748.1:n.*831+284A>C
ENST00000684263.1:c.*645A>C	ENSP00000508369.1:n.*645A>C
ENST00000684305.1:c.1869+284A>C	ENSP00000506819.1:n.1869+284A>C
ENST00000684415.1:c.*572A>C	ENSP00000507227.1:n.*572A>C
ENST00000684520.1:c.*280A>C	ENSP00000506826.1:n.*280A>C
ENST00000684602.1:c.*1087+284A>C	ENSP00000507996.1:n.*1087+284A>C
ENST00000684667.1:c.1752+284A>C	ENSP00000507003.1:n.1752+284A>C
ENST00000268097.10:c.1421+284A>C MANE Select	ENSP00000268097.6:n.1421+284A>C
ENST00000268097.9:c.1421+284A>C	ENSP00000268097.5:n.1421+284A>C
ENST00000379915.4:c.503+284A>C	ENSP00000478716.1:n.503+284A>C
ENST00000566304.5:c.1454+284A>C	ENSP00000455114.1:n.1454+284A>C
ENST00000567027.5:c.1036+284A>C
ENST00000567159.5:c.1421+284A>C	ENSP00000456489.1:n.1421+284A>C
ENST00000567411.5:c.*942+284A>C	ENSP00000455545.1:n.*942+284A>C
ENST00000568777.5:n.6641+284A>C
NM_000520.4:c.1421+284A>C	NP_000511.2:n.1421+284A>C
NM_000520.5:c.1421+284A>C	NP_000511.2:n.1421+284A>C
NM_001318825.1:c.1454+284A>C	NP_001305754.1:n.1454+284A>C
NR_134869.1:n.1665+284A>C
NM_000520.6:c.1421+284A>C MANE Select	NP_000511.2:n.1421+284A>C
NM_001318825.2:c.1454+284A>C	NP_001305754.1:n.1454+284A>C
NR_134869.2:n.1206+284A>C
NR_134869.3:n.1206+284A>C