Canonical Allele Identifier: CA715469402

Gene: HEXA

Linked Data

• dbSNP Id: rs1286149410
• gnomAD v3: 15-72343549-G-A
• gnomAD v4: 15-72343549-G-A
• MyVariant Identifiers: chr15:g.72635890G>A (hg19) ; chr15:g.72343549G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343549G>A , CM000677.2:g.72343549G>A	GRCh38
NC_000015.9:g.72635890G>A , CM000677.1:g.72635890G>A	GRCh37
NC_000015.8:g.70422944G>A	NCBI36
NG_009017.1:g.37631C>T
NG_009017.2:g.37631C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2345C>T
ENST00000682235.1:n.2141C>T
ENST00000682461.1:c.2224C>T	ENSP00000507308.1:n.2224C>T
ENST00000682653.1:n.4427C>T
ENST00000682721.1:c.*1921C>T	ENSP00000507535.1:n.*1921C>T
ENST00000682843.1:c.*1759C>T	ENSP00000508173.1:n.*1759C>T
ENST00000683133.1:c.2302C>T	ENSP00000508108.1:n.2302C>T
ENST00000683243.1:c.*1271C>T	ENSP00000507042.1:n.*1271C>T
ENST00000683463.1:c.*1607C>T	ENSP00000507986.1:n.*1607C>T
ENST00000683548.1:n.2576C>T
ENST00000683579.1:c.*2016C>T	ENSP00000506867.1:n.*2016C>T
ENST00000683587.1:n.2649C>T
ENST00000683735.1:c.*2516C>T	ENSP00000508336.1:n.*2516C>T
ENST00000683853.1:c.*2228C>T	ENSP00000506834.1:n.*2228C>T
ENST00000684125.1:c.*778C>T	ENSP00000507320.1:n.*778C>T
ENST00000684203.1:n.4567C>T
ENST00000684231.1:c.*1528C>T	ENSP00000507748.1:n.*1528C>T
ENST00000684263.1:c.*1742C>T	ENSP00000508369.1:n.*1742C>T
ENST00000684305.1:c.2566C>T	ENSP00000506819.1:n.2566C>T
ENST00000684602.1:c.*1784C>T	ENSP00000507996.1:n.*1784C>T
ENST00000684667.1:c.2449C>T	ENSP00000507003.1:n.2449C>T
ENST00000268097.10:c.*528C>T MANE Select	ENSP00000268097.6:n.*528C>T
ENST00000268097.9:c.*528C>T	ENSP00000268097.5:n.*528C>T
ENST00000379915.4:c.608+1897C>T	ENSP00000478716.1:n.608+1897C>T
NM_000520.4:c.*528C>T	NP_000511.2:n.*528C>T
NM_000520.5:c.*528C>T	NP_000511.2:n.*528C>T
NM_001318825.1:c.*528C>T	NP_001305754.1:n.*528C>T
NM_000520.6:c.*528C>T MANE Select	NP_000511.2:n.*528C>T
NM_001318825.2:c.*528C>T	NP_001305754.1:n.*528C>T