Canonical Allele Identifier: CA715469360

Gene: HEXA

Linked Data

• dbSNP Id: rs1223441758
• gnomAD v3: 15-72343456-A-G
• gnomAD v4: 15-72343456-A-G
• MyVariant Identifiers: chr15:g.72635797A>G (hg19) ; chr15:g.72343456A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343456A>G , CM000677.2:g.72343456A>G	GRCh38
NC_000015.9:g.72635797A>G , CM000677.1:g.72635797A>G	GRCh37
NC_000015.8:g.70422851A>G	NCBI36
NG_009017.1:g.37724T>C
NG_009017.2:g.37724T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2438T>C
ENST00000682235.1:n.2234T>C
ENST00000682461.1:c.2317T>C	ENSP00000507308.1:n.2317T>C
ENST00000682653.1:n.4520T>C
ENST00000682721.1:c.*2014T>C	ENSP00000507535.1:n.*2014T>C
ENST00000682843.1:c.*1852T>C	ENSP00000508173.1:n.*1852T>C
ENST00000683133.1:c.2395T>C	ENSP00000508108.1:n.2395T>C
ENST00000683243.1:c.*1364T>C	ENSP00000507042.1:n.*1364T>C
ENST00000683463.1:c.*1700T>C	ENSP00000507986.1:n.*1700T>C
ENST00000683548.1:n.2669T>C
ENST00000683579.1:c.*2109T>C	ENSP00000506867.1:n.*2109T>C
ENST00000683587.1:n.2742T>C
ENST00000683735.1:c.*2609T>C	ENSP00000508336.1:n.*2609T>C
ENST00000683853.1:c.*2321T>C	ENSP00000506834.1:n.*2321T>C
ENST00000684125.1:c.*871T>C	ENSP00000507320.1:n.*871T>C
ENST00000684203.1:n.4660T>C
ENST00000684231.1:c.*1621T>C	ENSP00000507748.1:n.*1621T>C
ENST00000684263.1:c.*1835T>C	ENSP00000508369.1:n.*1835T>C
ENST00000684305.1:c.2659T>C	ENSP00000506819.1:n.2659T>C
ENST00000684602.1:c.*1877T>C	ENSP00000507996.1:n.*1877T>C
ENST00000684667.1:c.2542T>C	ENSP00000507003.1:n.2542T>C
ENST00000268097.10:c.*621T>C MANE Select	ENSP00000268097.6:n.*621T>C
ENST00000268097.9:c.*621T>C	ENSP00000268097.5:n.*621T>C
ENST00000379915.4:c.608+1990T>C	ENSP00000478716.1:n.608+1990T>C
NM_000520.4:c.*621T>C	NP_000511.2:n.*621T>C
NM_000520.5:c.*621T>C	NP_000511.2:n.*621T>C
NM_001318825.1:c.*621T>C	NP_001305754.1:n.*621T>C
NM_000520.6:c.*621T>C MANE Select	NP_000511.2:n.*621T>C
NM_001318825.2:c.*621T>C	NP_001305754.1:n.*621T>C