Canonical Allele Identifier: CA491112842

Gene: HEXA

Linked Data

• gnomAD v4: 15-72345726-C-A
• MyVariant Identifiers: chr15:g.72638067C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345726C>A , CM000677.2:g.72345726C>A	GRCh38
NC_000015.9:g.72638067C>A , CM000677.1:g.72638067C>A	GRCh37
NC_000015.8:g.70425121C>A	NCBI36
NG_009017.1:g.35454G>T
NG_009017.2:g.35454G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*82-176G>T	ENSP00000457521.2:n.*82-176G>T
ENST00000682061.1:c.*1592G>T	ENSP00000508316.1:n.*1592G>T
ENST00000682064.1:n.1473G>T
ENST00000682177.1:c.1465-176G>T	ENSP00000507409.1:n.1465-176G>T
ENST00000682235.1:n.1269G>T
ENST00000682461.1:c.1528-176G>T	ENSP00000507308.1:n.1528-176G>T
ENST00000682653.1:n.2250G>T
ENST00000682657.1:c.*1083G>T	ENSP00000507753.1:n.*1083G>T
ENST00000682721.1:c.*1225-176G>T	ENSP00000507535.1:n.*1225-176G>T
ENST00000682843.1:c.*1063-176G>T	ENSP00000508173.1:n.*1063-176G>T
ENST00000683003.1:c.*1083G>T	ENSP00000507576.1:n.*1083G>T
ENST00000683133.1:c.1606-176G>T	ENSP00000508108.1:n.1606-176G>T
ENST00000683243.1:c.*575-176G>T	ENSP00000507042.1:n.*575-176G>T
ENST00000683463.1:c.*735G>T	ENSP00000507986.1:n.*735G>T
ENST00000683548.1:n.1704G>T
ENST00000683579.1:c.*1320-176G>T	ENSP00000506867.1:n.*1320-176G>T
ENST00000683587.1:n.1777G>T
ENST00000683681.1:c.*50G>T	ENSP00000508110.1:n.*50G>T
ENST00000683735.1:c.*1644G>T	ENSP00000508336.1:n.*1644G>T
ENST00000683853.1:c.*227-176G>T	ENSP00000506834.1:n.*227-176G>T
ENST00000683860.1:c.*366G>T	ENSP00000507179.1:n.*366G>T
ENST00000683884.1:c.*573G>T	ENSP00000507004.1:n.*573G>T
ENST00000684041.1:c.*505G>T	ENSP00000508382.1:n.*505G>T
ENST00000684125.1:c.*82-176G>T	ENSP00000507320.1:n.*82-176G>T
ENST00000684203.1:n.3695G>T
ENST00000684231.1:c.*832-176G>T	ENSP00000507748.1:n.*832-176G>T
ENST00000684263.1:c.*870G>T	ENSP00000508369.1:n.*870G>T
ENST00000684305.1:c.1870-176G>T	ENSP00000506819.1:n.1870-176G>T
ENST00000684415.1:c.*797G>T	ENSP00000507227.1:n.*797G>T
ENST00000684520.1:c.*505G>T	ENSP00000506826.1:n.*505G>T
ENST00000684602.1:c.*1088-176G>T	ENSP00000507996.1:n.*1088-176G>T
ENST00000684667.1:c.1753-176G>T	ENSP00000507003.1:n.1753-176G>T
ENST00000268097.10:c.1422-176G>T MANE Select	ENSP00000268097.6:n.1422-176G>T
ENST00000268097.9:c.1422-176G>T	ENSP00000268097.5:n.1422-176G>T
ENST00000379915.4:c.504-176G>T	ENSP00000478716.1:n.504-176G>T
ENST00000564677.5:n.164G>T
ENST00000565873.1:n.157G>T
ENST00000566304.5:c.1455-176G>T	ENSP00000455114.1:n.1455-176G>T
ENST00000567027.5:c.1037-176G>T
ENST00000567159.5:c.1422-176G>T	ENSP00000456489.1:n.1422-176G>T
ENST00000567411.5:c.*943-176G>T	ENSP00000455545.1:n.*943-176G>T
ENST00000568777.5:n.6642-176G>T
ENST00000569116.1:n.79G>T
NM_000520.4:c.1422-176G>T	NP_000511.2:n.1422-176G>T
NM_000520.5:c.1422-176G>T	NP_000511.2:n.1422-176G>T
NM_001318825.1:c.1455-176G>T	NP_001305754.1:n.1455-176G>T
NR_134869.1:n.1666-176G>T
NM_000520.6:c.1422-176G>T MANE Select	NP_000511.2:n.1422-176G>T
NM_001318825.2:c.1455-176G>T	NP_001305754.1:n.1455-176G>T
NR_134869.2:n.1207-176G>T
NR_134869.3:n.1207-176G>T