Canonical Allele Identifier: CA618766033

Gene: HEXA

Linked Data

• dbSNP Id: rs1046379119
• gnomAD v2: 15-72636012-A-G
• gnomAD v3: 15-72343671-A-G
• gnomAD v4: 15-72343671-A-G
• MyVariant Identifiers: chr15:g.72636012A>G (hg19) ; chr15:g.72343671A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72343671A>G , CM000677.2:g.72343671A>G	GRCh38
NC_000015.9:g.72636012A>G , CM000677.1:g.72636012A>G	GRCh37
NC_000015.8:g.70423066A>G	NCBI36
NG_009017.1:g.37509T>C
NG_009017.2:g.37509T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682064.1:n.2223T>C
ENST00000682235.1:n.2019T>C
ENST00000682461.1:c.2102T>C	ENSP00000507308.1:n.2102T>C
ENST00000682653.1:n.4305T>C
ENST00000682721.1:c.*1799T>C	ENSP00000507535.1:n.*1799T>C
ENST00000682843.1:c.*1637T>C	ENSP00000508173.1:n.*1637T>C
ENST00000683133.1:c.2180T>C	ENSP00000508108.1:n.2180T>C
ENST00000683243.1:c.*1149T>C	ENSP00000507042.1:n.*1149T>C
ENST00000683463.1:c.*1485T>C	ENSP00000507986.1:n.*1485T>C
ENST00000683548.1:n.2454T>C
ENST00000683579.1:c.*1894T>C	ENSP00000506867.1:n.*1894T>C
ENST00000683587.1:n.2527T>C
ENST00000683735.1:c.*2394T>C	ENSP00000508336.1:n.*2394T>C
ENST00000683853.1:c.*2106T>C	ENSP00000506834.1:n.*2106T>C
ENST00000684125.1:c.*656T>C	ENSP00000507320.1:n.*656T>C
ENST00000684203.1:n.4445T>C
ENST00000684231.1:c.*1406T>C	ENSP00000507748.1:n.*1406T>C
ENST00000684263.1:c.*1620T>C	ENSP00000508369.1:n.*1620T>C
ENST00000684305.1:c.2444T>C	ENSP00000506819.1:n.2444T>C
ENST00000684602.1:c.*1662T>C	ENSP00000507996.1:n.*1662T>C
ENST00000684667.1:c.2327T>C	ENSP00000507003.1:n.2327T>C
ENST00000268097.10:c.*406T>C MANE Select	ENSP00000268097.6:n.*406T>C
ENST00000268097.9:c.*406T>C	ENSP00000268097.5:n.*406T>C
ENST00000379915.4:c.608+1775T>C	ENSP00000478716.1:n.608+1775T>C
NM_000520.4:c.*406T>C	NP_000511.2:n.*406T>C
NM_000520.5:c.*406T>C	NP_000511.2:n.*406T>C
NM_001318825.1:c.*406T>C	NP_001305754.1:n.*406T>C
NM_000520.6:c.*406T>C MANE Select	NP_000511.2:n.*406T>C
NM_001318825.2:c.*406T>C	NP_001305754.1:n.*406T>C