Canonical Allele Identifier: CA272607699

Gene: HEXA

Linked Data

• dbSNP Id: rs573845046
• gnomAD v2: 15-72636018-C-G
• gnomAD v3: 15-72343677-C-G
• gnomAD v4: 15-72343677-C-G
• MyVariant Identifiers: chr15:g.72636018C>G (hg19) ; chr15:g.72343677C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343677C>G , CM000677.2:g.72343677C>G	GRCh38
NC_000015.9:g.72636018C>G , CM000677.1:g.72636018C>G	GRCh37
NC_000015.8:g.70423072C>G	NCBI36
NG_009017.1:g.37503G>C
NG_009017.2:g.37503G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682064.1:n.2217G>C
ENST00000682235.1:n.2013G>C
ENST00000682461.1:c.2096G>C	ENSP00000507308.1:n.2096G>C
ENST00000682653.1:n.4299G>C
ENST00000682721.1:c.*1793G>C	ENSP00000507535.1:n.*1793G>C
ENST00000682843.1:c.*1631G>C	ENSP00000508173.1:n.*1631G>C
ENST00000683133.1:c.2174G>C	ENSP00000508108.1:n.2174G>C
ENST00000683243.1:c.*1143G>C	ENSP00000507042.1:n.*1143G>C
ENST00000683463.1:c.*1479G>C	ENSP00000507986.1:n.*1479G>C
ENST00000683548.1:n.2448G>C
ENST00000683579.1:c.*1888G>C	ENSP00000506867.1:n.*1888G>C
ENST00000683587.1:n.2521G>C
ENST00000683735.1:c.*2388G>C	ENSP00000508336.1:n.*2388G>C
ENST00000683853.1:c.*2100G>C	ENSP00000506834.1:n.*2100G>C
ENST00000684125.1:c.*650G>C	ENSP00000507320.1:n.*650G>C
ENST00000684203.1:n.4439G>C
ENST00000684231.1:c.*1400G>C	ENSP00000507748.1:n.*1400G>C
ENST00000684263.1:c.*1614G>C	ENSP00000508369.1:n.*1614G>C
ENST00000684305.1:c.2438G>C	ENSP00000506819.1:n.2438G>C
ENST00000684602.1:c.*1656G>C	ENSP00000507996.1:n.*1656G>C
ENST00000684667.1:c.2321G>C	ENSP00000507003.1:n.2321G>C
ENST00000268097.10:c.*400G>C MANE Select	ENSP00000268097.6:n.*400G>C
ENST00000268097.9:c.*400G>C	ENSP00000268097.5:n.*400G>C
ENST00000379915.4:c.608+1769G>C	ENSP00000478716.1:n.608+1769G>C
NM_000520.4:c.*400G>C	NP_000511.2:n.*400G>C
NM_000520.5:c.*400G>C	NP_000511.2:n.*400G>C
NM_001318825.1:c.*400G>C	NP_001305754.1:n.*400G>C
NM_000520.6:c.*400G>C MANE Select	NP_000511.2:n.*400G>C
NM_001318825.2:c.*400G>C	NP_001305754.1:n.*400G>C