Canonical Allele Identifier: CA2629339714

Gene: HEXA

Linked Data

• gnomAD v4: 15-72343655-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343655A>G , CM000677.2:g.72343655A>G	GRCh38
NC_000015.9:g.72635996A>G , CM000677.1:g.72635996A>G	GRCh37
NC_000015.8:g.70423050A>G	NCBI36
NG_009017.1:g.37525T>C
NG_009017.2:g.37525T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2239T>C
ENST00000682235.1:n.2035T>C
ENST00000682461.1:c.2118T>C	ENSP00000507308.1:n.2118T>C
ENST00000682653.1:n.4321T>C
ENST00000682721.1:c.*1815T>C	ENSP00000507535.1:n.*1815T>C
ENST00000682843.1:c.*1653T>C	ENSP00000508173.1:n.*1653T>C
ENST00000683133.1:c.2196T>C	ENSP00000508108.1:n.2196T>C
ENST00000683243.1:c.*1165T>C	ENSP00000507042.1:n.*1165T>C
ENST00000683463.1:c.*1501T>C	ENSP00000507986.1:n.*1501T>C
ENST00000683548.1:n.2470T>C
ENST00000683579.1:c.*1910T>C	ENSP00000506867.1:n.*1910T>C
ENST00000683587.1:n.2543T>C
ENST00000683735.1:c.*2410T>C	ENSP00000508336.1:n.*2410T>C
ENST00000683853.1:c.*2122T>C	ENSP00000506834.1:n.*2122T>C
ENST00000684125.1:c.*672T>C	ENSP00000507320.1:n.*672T>C
ENST00000684203.1:n.4461T>C
ENST00000684231.1:c.*1422T>C	ENSP00000507748.1:n.*1422T>C
ENST00000684263.1:c.*1636T>C	ENSP00000508369.1:n.*1636T>C
ENST00000684305.1:c.2460T>C	ENSP00000506819.1:n.2460T>C
ENST00000684602.1:c.*1678T>C	ENSP00000507996.1:n.*1678T>C
ENST00000684667.1:c.2343T>C	ENSP00000507003.1:n.2343T>C
ENST00000268097.10:c.*422T>C MANE Select	ENSP00000268097.6:n.*422T>C
ENST00000268097.9:c.*422T>C	ENSP00000268097.5:n.*422T>C
ENST00000379915.4:c.608+1791T>C	ENSP00000478716.1:n.608+1791T>C
NM_000520.4:c.*422T>C	NP_000511.2:n.*422T>C
NM_000520.5:c.*422T>C	NP_000511.2:n.*422T>C
NM_001318825.1:c.*422T>C	NP_001305754.1:n.*422T>C
NM_000520.6:c.*422T>C MANE Select	NP_000511.2:n.*422T>C
NM_001318825.2:c.*422T>C	NP_001305754.1:n.*422T>C