Canonical Allele Identifier: CA491111472

Gene: HEXA

Linked Data

• gnomAD v4: 15-72345502-T-G
• MyVariant Identifiers: chr15:g.72637843T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345502T>G , CM000677.2:g.72345502T>G	GRCh38
NC_000015.9:g.72637843T>G , CM000677.1:g.72637843T>G	GRCh37
NC_000015.8:g.70424897T>G	NCBI36
NG_009017.1:g.35678A>C
NG_009017.2:g.35678A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000567027.6:c.*130A>C	ENSP00000457521.2:n.*130A>C
ENST00000682061.1:c.*1816A>C	ENSP00000508316.1:n.*1816A>C
ENST00000682064.1:n.1697A>C
ENST00000682177.1:c.1513A>C	ENSP00000507409.1:n.1513A>C
ENST00000682235.1:n.1493A>C
ENST00000682461.1:c.1576A>C	ENSP00000507308.1:n.1576A>C
ENST00000682653.1:n.2474A>C
ENST00000682657.1:c.*1307A>C	ENSP00000507753.1:n.*1307A>C
ENST00000682721.1:c.*1273A>C	ENSP00000507535.1:n.*1273A>C
ENST00000682843.1:c.*1111A>C	ENSP00000508173.1:n.*1111A>C
ENST00000683003.1:c.*1307A>C	ENSP00000507576.1:n.*1307A>C
ENST00000683133.1:c.1654A>C	ENSP00000508108.1:n.1654A>C
ENST00000683243.1:c.*623A>C	ENSP00000507042.1:n.*623A>C
ENST00000683463.1:c.*959A>C	ENSP00000507986.1:n.*959A>C
ENST00000683548.1:n.1928A>C
ENST00000683579.1:c.*1368A>C	ENSP00000506867.1:n.*1368A>C
ENST00000683587.1:n.2001A>C
ENST00000683681.1:c.*148A>C	ENSP00000508110.1:n.*148A>C
ENST00000683735.1:c.*1868A>C	ENSP00000508336.1:n.*1868A>C
ENST00000683853.1:c.*275A>C	ENSP00000506834.1:n.*275A>C
ENST00000683860.1:c.*590A>C	ENSP00000507179.1:n.*590A>C
ENST00000683884.1:c.*797A>C	ENSP00000507004.1:n.*797A>C
ENST00000684041.1:c.*603A>C	ENSP00000508382.1:n.*603A>C
ENST00000684125.1:c.*130A>C	ENSP00000507320.1:n.*130A>C
ENST00000684203.1:n.3919A>C
ENST00000684231.1:c.*880A>C	ENSP00000507748.1:n.*880A>C
ENST00000684263.1:c.*1094A>C	ENSP00000508369.1:n.*1094A>C
ENST00000684305.1:c.1918A>C	ENSP00000506819.1:n.1918A>C
ENST00000684415.1:c.*1021A>C	ENSP00000507227.1:n.*1021A>C
ENST00000684520.1:c.*729A>C	ENSP00000506826.1:n.*729A>C
ENST00000684602.1:c.*1136A>C	ENSP00000507996.1:n.*1136A>C
ENST00000684667.1:c.1801A>C	ENSP00000507003.1:n.1801A>C
ENST00000268097.10:c.1470A>C MANE Select	ENSP00000268097.6:p.Thr490=
ENST00000268097.9:c.1470A>C	ENSP00000268097.5:p.Thr490=
ENST00000379915.4:c.552A>C	ENSP00000478716.1:p.Thr184=
ENST00000564677.5:n.262A>C
ENST00000565873.1:n.381A>C
ENST00000566304.5:c.1503A>C	ENSP00000455114.1:p.Thr501=
ENST00000567027.5:c.1085A>C
ENST00000567159.5:c.1470A>C	ENSP00000456489.1:p.Thr490=
ENST00000567411.5:c.*991A>C	ENSP00000455545.1:n.*991A>C
ENST00000568777.5:n.6690A>C
ENST00000569116.1:n.177A>C
NM_000520.4:c.1470A>C	NP_000511.2:p.Thr490=
NM_000520.5:c.1470A>C	NP_000511.2:p.Thr490=
NM_001318825.1:c.1503A>C	NP_001305754.1:p.Thr501=
NR_134869.1:n.1714A>C
NM_000520.6:c.1470A>C MANE Select	NP_000511.2:p.Thr490=
NM_001318825.2:c.1503A>C	NP_001305754.1:p.Thr501=
NR_134869.2:n.1255A>C
NR_134869.3:n.1255A>C