Canonical Allele Identifier: CA491111158

Gene: HEXA

Linked Data

• gnomAD v4: 15-72345453-A-G
• MyVariant Identifiers: chr15:g.72637794A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345453A>G , CM000677.2:g.72345453A>G	GRCh38
NC_000015.9:g.72637794A>G , CM000677.1:g.72637794A>G	GRCh37
NC_000015.8:g.70424848A>G	NCBI36
NG_009017.1:g.35727T>C
NG_009017.2:g.35727T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*179T>C	ENSP00000457521.2:n.*179T>C
ENST00000682061.1:c.*1865T>C	ENSP00000508316.1:n.*1865T>C
ENST00000682064.1:n.1746T>C
ENST00000682177.1:c.1562T>C	ENSP00000507409.1:n.1562T>C
ENST00000682235.1:n.1542T>C
ENST00000682461.1:c.1625T>C	ENSP00000507308.1:n.1625T>C
ENST00000682653.1:n.2523T>C
ENST00000682657.1:c.*1356T>C	ENSP00000507753.1:n.*1356T>C
ENST00000682721.1:c.*1322T>C	ENSP00000507535.1:n.*1322T>C
ENST00000682843.1:c.*1160T>C	ENSP00000508173.1:n.*1160T>C
ENST00000683003.1:c.*1356T>C	ENSP00000507576.1:n.*1356T>C
ENST00000683133.1:c.1703T>C	ENSP00000508108.1:n.1703T>C
ENST00000683243.1:c.*672T>C	ENSP00000507042.1:n.*672T>C
ENST00000683463.1:c.*1008T>C	ENSP00000507986.1:n.*1008T>C
ENST00000683548.1:n.1977T>C
ENST00000683579.1:c.*1417T>C	ENSP00000506867.1:n.*1417T>C
ENST00000683587.1:n.2050T>C
ENST00000683681.1:c.*197T>C	ENSP00000508110.1:n.*197T>C
ENST00000683735.1:c.*1917T>C	ENSP00000508336.1:n.*1917T>C
ENST00000683853.1:c.*324T>C	ENSP00000506834.1:n.*324T>C
ENST00000683860.1:c.*639T>C	ENSP00000507179.1:n.*639T>C
ENST00000683884.1:c.*846T>C	ENSP00000507004.1:n.*846T>C
ENST00000684125.1:c.*179T>C	ENSP00000507320.1:n.*179T>C
ENST00000684203.1:n.3968T>C
ENST00000684231.1:c.*929T>C	ENSP00000507748.1:n.*929T>C
ENST00000684263.1:c.*1143T>C	ENSP00000508369.1:n.*1143T>C
ENST00000684305.1:c.1967T>C	ENSP00000506819.1:n.1967T>C
ENST00000684415.1:c.*1070T>C	ENSP00000507227.1:n.*1070T>C
ENST00000684520.1:c.*778T>C	ENSP00000506826.1:n.*778T>C
ENST00000684602.1:c.*1185T>C	ENSP00000507996.1:n.*1185T>C
ENST00000684667.1:c.1850T>C	ENSP00000507003.1:n.1850T>C
ENST00000268097.10:c.1519T>C MANE Select	ENSP00000268097.6:p.Leu507=
ENST00000268097.9:c.1519T>C	ENSP00000268097.5:p.Leu507=
ENST00000379915.4:c.601T>C	ENSP00000478716.1:p.Leu201=
ENST00000564677.5:n.311T>C
ENST00000565873.1:n.430T>C
ENST00000566304.5:c.1552T>C	ENSP00000455114.1:p.Leu518=
ENST00000567027.5:c.1134T>C
ENST00000567159.5:c.1519T>C	ENSP00000456489.1:p.Leu507=
ENST00000567411.5:c.*1040T>C	ENSP00000455545.1:n.*1040T>C
ENST00000568777.5:n.6739T>C
ENST00000569116.1:n.226T>C
NM_000520.4:c.1519T>C	NP_000511.2:p.Leu507=
NM_000520.5:c.1519T>C	NP_000511.2:p.Leu507=
NM_001318825.1:c.1552T>C	NP_001305754.1:p.Leu518=
NR_134869.1:n.1763T>C
NM_000520.6:c.1519T>C MANE Select	NP_000511.2:p.Leu507=
NM_001318825.2:c.1552T>C	NP_001305754.1:p.Leu518=
NR_134869.2:n.1304T>C
NR_134869.3:n.1304T>C