Canonical Allele Identifier: CA7644669

Gene: HEXA

Linked Data

• ClinVar Variation Id: 2168841
• ClinVar RCV Id: RCV003082773
• dbSNP Id: rs767554113
• ExAC: 15:72637839 C / G
• gnomAD v2: 15-72637839-C-G
• gnomAD v3: 15-72345498-C-G
• gnomAD v4: 15-72345498-C-G
• MyVariant Identifiers: chr15:g.72637839C>G (hg19) ; chr15:g.72345498C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345498C>G , CM000677.2:g.72345498C>G	GRCh38
NC_000015.9:g.72637839C>G , CM000677.1:g.72637839C>G	GRCh37
NC_000015.8:g.70424893C>G	NCBI36
NG_009017.1:g.35682G>C
NG_009017.2:g.35682G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*134G>C	ENSP00000457521.2:n.*134G>C
ENST00000682061.1:c.*1820G>C	ENSP00000508316.1:n.*1820G>C
ENST00000682064.1:n.1701G>C
ENST00000682177.1:c.1517G>C	ENSP00000507409.1:n.1517G>C
ENST00000682235.1:n.1497G>C
ENST00000682461.1:c.1580G>C	ENSP00000507308.1:n.1580G>C
ENST00000682653.1:n.2478G>C
ENST00000682657.1:c.*1311G>C	ENSP00000507753.1:n.*1311G>C
ENST00000682721.1:c.*1277G>C	ENSP00000507535.1:n.*1277G>C
ENST00000682843.1:c.*1115G>C	ENSP00000508173.1:n.*1115G>C
ENST00000683003.1:c.*1311G>C	ENSP00000507576.1:n.*1311G>C
ENST00000683133.1:c.1658G>C	ENSP00000508108.1:n.1658G>C
ENST00000683243.1:c.*627G>C	ENSP00000507042.1:n.*627G>C
ENST00000683463.1:c.*963G>C	ENSP00000507986.1:n.*963G>C
ENST00000683548.1:n.1932G>C
ENST00000683579.1:c.*1372G>C	ENSP00000506867.1:n.*1372G>C
ENST00000683587.1:n.2005G>C
ENST00000683681.1:c.*152G>C	ENSP00000508110.1:n.*152G>C
ENST00000683735.1:c.*1872G>C	ENSP00000508336.1:n.*1872G>C
ENST00000683853.1:c.*279G>C	ENSP00000506834.1:n.*279G>C
ENST00000683860.1:c.*594G>C	ENSP00000507179.1:n.*594G>C
ENST00000683884.1:c.*801G>C	ENSP00000507004.1:n.*801G>C
ENST00000684041.1:c.*607G>C	ENSP00000508382.1:n.*607G>C
ENST00000684125.1:c.*134G>C	ENSP00000507320.1:n.*134G>C
ENST00000684203.1:n.3923G>C
ENST00000684231.1:c.*884G>C	ENSP00000507748.1:n.*884G>C
ENST00000684263.1:c.*1098G>C	ENSP00000508369.1:n.*1098G>C
ENST00000684305.1:c.1922G>C	ENSP00000506819.1:n.1922G>C
ENST00000684415.1:c.*1025G>C	ENSP00000507227.1:n.*1025G>C
ENST00000684520.1:c.*733G>C	ENSP00000506826.1:n.*733G>C
ENST00000684602.1:c.*1140G>C	ENSP00000507996.1:n.*1140G>C
ENST00000684667.1:c.1805G>C	ENSP00000507003.1:n.1805G>C
ENST00000268097.10:c.1474G>C MANE Select	ENSP00000268097.6:p.Asp492His
ENST00000268097.9:c.1474G>C	ENSP00000268097.5:p.Asp492His
ENST00000379915.4:c.556G>C	ENSP00000478716.1:p.Asp186His
ENST00000564677.5:n.266G>C
ENST00000565873.1:n.385G>C
ENST00000566304.5:c.1507G>C	ENSP00000455114.1:p.Asp503His
ENST00000567027.5:c.1089G>C
ENST00000567159.5:c.1474G>C	ENSP00000456489.1:p.Asp492His
ENST00000567411.5:c.*995G>C	ENSP00000455545.1:n.*995G>C
ENST00000568777.5:n.6694G>C
ENST00000569116.1:n.181G>C
NM_000520.4:c.1474G>C	NP_000511.2:p.Asp492His
NM_000520.5:c.1474G>C	NP_000511.2:p.Asp492His
NM_001318825.1:c.1507G>C	NP_001305754.1:p.Asp503His
NR_134869.1:n.1718G>C
NM_000520.6:c.1474G>C MANE Select	NP_000511.2:p.Asp492His
NM_001318825.2:c.1507G>C	NP_001305754.1:p.Asp503His
NR_134869.2:n.1259G>C
NR_134869.3:n.1259G>C