Canonical Allele Identifier: CA393059342

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72638649C>G (hg19) ; chr15:g.72346308C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72346308C>G , CM000677.2:g.72346308C>G	GRCh38
NC_000015.9:g.72638649C>G , CM000677.1:g.72638649C>G	GRCh37
NC_000015.8:g.70425703C>G	NCBI36
NG_009017.1:g.34872G>C
NG_009017.2:g.34872G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*8G>C	ENSP00000457521.2:n.*8G>C
ENST00000682061.1:c.*1010G>C	ENSP00000508316.1:n.*1010G>C
ENST00000682064.1:n.891G>C
ENST00000682177.1:c.1391G>C	ENSP00000507409.1:n.1391G>C
ENST00000682235.1:n.687G>C
ENST00000682461.1:c.1454G>C	ENSP00000507308.1:n.1454G>C
ENST00000682653.1:n.1668G>C
ENST00000682657.1:c.*501G>C	ENSP00000507753.1:n.*501G>C
ENST00000682721.1:c.*1151G>C	ENSP00000507535.1:n.*1151G>C
ENST00000682843.1:c.*989G>C	ENSP00000508173.1:n.*989G>C
ENST00000683003.1:c.*501G>C	ENSP00000507576.1:n.*501G>C
ENST00000683133.1:c.1532G>C	ENSP00000508108.1:n.1532G>C
ENST00000683243.1:c.*501G>C	ENSP00000507042.1:n.*501G>C
ENST00000683463.1:c.*153G>C	ENSP00000507986.1:n.*153G>C
ENST00000683548.1:n.1122G>C
ENST00000683579.1:c.*1246G>C	ENSP00000506867.1:n.*1246G>C
ENST00000683587.1:n.1195G>C
ENST00000683681.1:c.1348G>C	ENSP00000508110.1:p.Ala450Pro
ENST00000683735.1:c.*1062G>C	ENSP00000508336.1:n.*1062G>C
ENST00000683853.1:c.*153G>C	ENSP00000506834.1:n.*153G>C
ENST00000683860.1:c.1348G>C	ENSP00000507179.1:p.Ala450Pro
ENST00000683884.1:c.1164G>C	ENSP00000507004.1:p.Arg388Ser
ENST00000684041.1:c.1348G>C	ENSP00000508382.1:p.Ala450Pro
ENST00000684125.1:c.*8G>C	ENSP00000507320.1:n.*8G>C
ENST00000684203.1:n.3113G>C
ENST00000684231.1:c.*758G>C	ENSP00000507748.1:n.*758G>C
ENST00000684263.1:c.*288G>C	ENSP00000508369.1:n.*288G>C
ENST00000684305.1:c.1796G>C	ENSP00000506819.1:n.1796G>C
ENST00000684415.1:c.*215G>C	ENSP00000507227.1:n.*215G>C
ENST00000684520.1:c.1348G>C	ENSP00000506826.1:p.Ala450Pro
ENST00000684602.1:c.*1014G>C	ENSP00000507996.1:n.*1014G>C
ENST00000684667.1:c.1679G>C	ENSP00000507003.1:n.1679G>C
ENST00000268097.10:c.1348G>C MANE Select	ENSP00000268097.6:p.Ala450Pro
ENST00000268097.9:c.1348G>C	ENSP00000268097.5:p.Ala450Pro
ENST00000379915.4:c.430G>C	ENSP00000478716.1:p.Ala144Pro
ENST00000563762.5:c.843G>C	ENSP00000456346.1:n.843G>C
ENST00000566304.5:c.1381G>C	ENSP00000455114.1:p.Ala461Pro
ENST00000566672.5:c.*758G>C	ENSP00000457037.1:n.*758G>C
ENST00000567027.5:c.963G>C
ENST00000567159.5:c.1348G>C	ENSP00000456489.1:p.Ala450Pro
ENST00000567411.5:c.*869G>C	ENSP00000455545.1:n.*869G>C
ENST00000568777.5:n.6568G>C
ENST00000569410.5:c.*153G>C	ENSP00000457125.1:n.*153G>C
NM_000520.4:c.1348G>C	NP_000511.2:p.Ala450Pro
NM_000520.5:c.1348G>C	NP_000511.2:p.Ala450Pro
NM_001318825.1:c.1381G>C	NP_001305754.1:p.Ala461Pro
NR_134869.1:n.1592G>C
NM_000520.6:c.1348G>C MANE Select	NP_000511.2:p.Ala450Pro
NM_001318825.2:c.1381G>C	NP_001305754.1:p.Ala461Pro
NR_134869.2:n.1133G>C
NR_134869.3:n.1133G>C