Canonical Allele Identifier: CA715469494

Gene: HEXA

Linked Data

• dbSNP Id: rs1256592162
• gnomAD v4: 15-72343704-A-G
• MyVariant Identifiers: chr15:g.72636045A>G (hg19) ; chr15:g.72343704A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343704A>G , CM000677.2:g.72343704A>G	GRCh38
NC_000015.9:g.72636045A>G , CM000677.1:g.72636045A>G	GRCh37
NC_000015.8:g.70423099A>G	NCBI36
NG_009017.1:g.37476T>C
NG_009017.2:g.37476T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682064.1:n.2190T>C
ENST00000682235.1:n.1986T>C
ENST00000682461.1:c.2069T>C	ENSP00000507308.1:n.2069T>C
ENST00000682653.1:n.4272T>C
ENST00000682721.1:c.*1766T>C	ENSP00000507535.1:n.*1766T>C
ENST00000682843.1:c.*1604T>C	ENSP00000508173.1:n.*1604T>C
ENST00000683133.1:c.2147T>C	ENSP00000508108.1:n.2147T>C
ENST00000683243.1:c.*1116T>C	ENSP00000507042.1:n.*1116T>C
ENST00000683463.1:c.*1452T>C	ENSP00000507986.1:n.*1452T>C
ENST00000683548.1:n.2421T>C
ENST00000683579.1:c.*1861T>C	ENSP00000506867.1:n.*1861T>C
ENST00000683587.1:n.2494T>C
ENST00000683735.1:c.*2361T>C	ENSP00000508336.1:n.*2361T>C
ENST00000683853.1:c.*2073T>C	ENSP00000506834.1:n.*2073T>C
ENST00000684125.1:c.*623T>C	ENSP00000507320.1:n.*623T>C
ENST00000684203.1:n.4412T>C
ENST00000684231.1:c.*1373T>C	ENSP00000507748.1:n.*1373T>C
ENST00000684263.1:c.*1587T>C	ENSP00000508369.1:n.*1587T>C
ENST00000684305.1:c.2411T>C	ENSP00000506819.1:n.2411T>C
ENST00000684602.1:c.*1629T>C	ENSP00000507996.1:n.*1629T>C
ENST00000684667.1:c.2294T>C	ENSP00000507003.1:n.2294T>C
ENST00000268097.10:c.*373T>C MANE Select	ENSP00000268097.6:n.*373T>C
ENST00000268097.9:c.*373T>C	ENSP00000268097.5:n.*373T>C
ENST00000379915.4:c.608+1742T>C	ENSP00000478716.1:n.608+1742T>C
NM_000520.4:c.*373T>C	NP_000511.2:n.*373T>C
NM_000520.5:c.*373T>C	NP_000511.2:n.*373T>C
NM_001318825.1:c.*373T>C	NP_001305754.1:n.*373T>C
NM_000520.6:c.*373T>C MANE Select	NP_000511.2:n.*373T>C
NM_001318825.2:c.*373T>C	NP_001305754.1:n.*373T>C