Canonical Allele Identifier: CA618766034

Gene: HEXA

Linked Data

• dbSNP Id: rs1271004196
• gnomAD v2: 15-72636046-T-C
• gnomAD v3: 15-72343705-T-C
• gnomAD v4: 15-72343705-T-C
• MyVariant Identifiers: chr15:g.72636046T>C (hg19) ; chr15:g.72343705T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343705T>C , CM000677.2:g.72343705T>C	GRCh38
NC_000015.9:g.72636046T>C , CM000677.1:g.72636046T>C	GRCh37
NC_000015.8:g.70423100T>C	NCBI36
NG_009017.1:g.37475A>G
NG_009017.2:g.37475A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682064.1:n.2189A>G
ENST00000682235.1:n.1985A>G
ENST00000682461.1:c.2068A>G	ENSP00000507308.1:n.2068A>G
ENST00000682653.1:n.4271A>G
ENST00000682721.1:c.*1765A>G	ENSP00000507535.1:n.*1765A>G
ENST00000682843.1:c.*1603A>G	ENSP00000508173.1:n.*1603A>G
ENST00000683133.1:c.2146A>G	ENSP00000508108.1:n.2146A>G
ENST00000683243.1:c.*1115A>G	ENSP00000507042.1:n.*1115A>G
ENST00000683463.1:c.*1451A>G	ENSP00000507986.1:n.*1451A>G
ENST00000683548.1:n.2420A>G
ENST00000683579.1:c.*1860A>G	ENSP00000506867.1:n.*1860A>G
ENST00000683587.1:n.2493A>G
ENST00000683735.1:c.*2360A>G	ENSP00000508336.1:n.*2360A>G
ENST00000683853.1:c.*2072A>G	ENSP00000506834.1:n.*2072A>G
ENST00000684125.1:c.*622A>G	ENSP00000507320.1:n.*622A>G
ENST00000684203.1:n.4411A>G
ENST00000684231.1:c.*1372A>G	ENSP00000507748.1:n.*1372A>G
ENST00000684263.1:c.*1586A>G	ENSP00000508369.1:n.*1586A>G
ENST00000684305.1:c.2410A>G	ENSP00000506819.1:n.2410A>G
ENST00000684602.1:c.*1628A>G	ENSP00000507996.1:n.*1628A>G
ENST00000684667.1:c.2293A>G	ENSP00000507003.1:n.2293A>G
ENST00000268097.10:c.*372A>G MANE Select	ENSP00000268097.6:n.*372A>G
ENST00000268097.9:c.*372A>G	ENSP00000268097.5:n.*372A>G
ENST00000379915.4:c.608+1741A>G	ENSP00000478716.1:n.608+1741A>G
NM_000520.4:c.*372A>G	NP_000511.2:n.*372A>G
NM_000520.5:c.*372A>G	NP_000511.2:n.*372A>G
NM_001318825.1:c.*372A>G	NP_001305754.1:n.*372A>G
NM_000520.6:c.*372A>G MANE Select	NP_000511.2:n.*372A>G
NM_001318825.2:c.*372A>G	NP_001305754.1:n.*372A>G