Canonical Allele Identifier: CA491112709

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72638048C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345707C>G , CM000677.2:g.72345707C>G	GRCh38
NC_000015.9:g.72638048C>G , CM000677.1:g.72638048C>G	GRCh37
NC_000015.8:g.70425102C>G	NCBI36
NG_009017.1:g.35473G>C
NG_009017.2:g.35473G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*82-157G>C	ENSP00000457521.2:n.*82-157G>C
ENST00000682061.1:c.*1611G>C	ENSP00000508316.1:n.*1611G>C
ENST00000682064.1:n.1492G>C
ENST00000682177.1:c.1465-157G>C	ENSP00000507409.1:n.1465-157G>C
ENST00000682235.1:n.1288G>C
ENST00000682461.1:c.1528-157G>C	ENSP00000507308.1:n.1528-157G>C
ENST00000682653.1:n.2269G>C
ENST00000682657.1:c.*1102G>C	ENSP00000507753.1:n.*1102G>C
ENST00000682721.1:c.*1225-157G>C	ENSP00000507535.1:n.*1225-157G>C
ENST00000682843.1:c.*1063-157G>C	ENSP00000508173.1:n.*1063-157G>C
ENST00000683003.1:c.*1102G>C	ENSP00000507576.1:n.*1102G>C
ENST00000683133.1:c.1606-157G>C	ENSP00000508108.1:n.1606-157G>C
ENST00000683243.1:c.*575-157G>C	ENSP00000507042.1:n.*575-157G>C
ENST00000683463.1:c.*754G>C	ENSP00000507986.1:n.*754G>C
ENST00000683548.1:n.1723G>C
ENST00000683579.1:c.*1320-157G>C	ENSP00000506867.1:n.*1320-157G>C
ENST00000683587.1:n.1796G>C
ENST00000683681.1:c.*69G>C	ENSP00000508110.1:n.*69G>C
ENST00000683735.1:c.*1663G>C	ENSP00000508336.1:n.*1663G>C
ENST00000683853.1:c.*227-157G>C	ENSP00000506834.1:n.*227-157G>C
ENST00000683860.1:c.*385G>C	ENSP00000507179.1:n.*385G>C
ENST00000683884.1:c.*592G>C	ENSP00000507004.1:n.*592G>C
ENST00000684041.1:c.*524G>C	ENSP00000508382.1:n.*524G>C
ENST00000684125.1:c.*82-157G>C	ENSP00000507320.1:n.*82-157G>C
ENST00000684203.1:n.3714G>C
ENST00000684231.1:c.*832-157G>C	ENSP00000507748.1:n.*832-157G>C
ENST00000684263.1:c.*889G>C	ENSP00000508369.1:n.*889G>C
ENST00000684305.1:c.1870-157G>C	ENSP00000506819.1:n.1870-157G>C
ENST00000684415.1:c.*816G>C	ENSP00000507227.1:n.*816G>C
ENST00000684520.1:c.*524G>C	ENSP00000506826.1:n.*524G>C
ENST00000684602.1:c.*1088-157G>C	ENSP00000507996.1:n.*1088-157G>C
ENST00000684667.1:c.1753-157G>C	ENSP00000507003.1:n.1753-157G>C
ENST00000268097.10:c.1422-157G>C MANE Select	ENSP00000268097.6:n.1422-157G>C
ENST00000268097.9:c.1422-157G>C	ENSP00000268097.5:n.1422-157G>C
ENST00000379915.4:c.504-157G>C	ENSP00000478716.1:n.504-157G>C
ENST00000564677.5:n.183G>C
ENST00000565873.1:n.176G>C
ENST00000566304.5:c.1455-157G>C	ENSP00000455114.1:n.1455-157G>C
ENST00000567027.5:c.1037-157G>C
ENST00000567159.5:c.1422-157G>C	ENSP00000456489.1:n.1422-157G>C
ENST00000567411.5:c.*943-157G>C	ENSP00000455545.1:n.*943-157G>C
ENST00000568777.5:n.6642-157G>C
ENST00000569116.1:n.98G>C
NM_000520.4:c.1422-157G>C	NP_000511.2:n.1422-157G>C
NM_000520.5:c.1422-157G>C	NP_000511.2:n.1422-157G>C
NM_001318825.1:c.1455-157G>C	NP_001305754.1:n.1455-157G>C
NR_134869.1:n.1666-157G>C
NM_000520.6:c.1422-157G>C MANE Select	NP_000511.2:n.1422-157G>C
NM_001318825.2:c.1455-157G>C	NP_001305754.1:n.1455-157G>C
NR_134869.2:n.1207-157G>C
NR_134869.3:n.1207-157G>C