Canonical Allele Identifier: CA491112517

Gene: HEXA

Linked Data

• gnomAD v4: 15-72345675-A-G
• MyVariant Identifiers: chr15:g.72638016A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345675A>G , CM000677.2:g.72345675A>G	GRCh38
NC_000015.9:g.72638016A>G , CM000677.1:g.72638016A>G	GRCh37
NC_000015.8:g.70425070A>G	NCBI36
NG_009017.1:g.35505T>C
NG_009017.2:g.35505T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*82-125T>C	ENSP00000457521.2:n.*82-125T>C
ENST00000682061.1:c.*1643T>C	ENSP00000508316.1:n.*1643T>C
ENST00000682064.1:n.1524T>C
ENST00000682177.1:c.1465-125T>C	ENSP00000507409.1:n.1465-125T>C
ENST00000682235.1:n.1320T>C
ENST00000682461.1:c.1528-125T>C	ENSP00000507308.1:n.1528-125T>C
ENST00000682653.1:n.2301T>C
ENST00000682657.1:c.*1134T>C	ENSP00000507753.1:n.*1134T>C
ENST00000682721.1:c.*1225-125T>C	ENSP00000507535.1:n.*1225-125T>C
ENST00000682843.1:c.*1063-125T>C	ENSP00000508173.1:n.*1063-125T>C
ENST00000683003.1:c.*1134T>C	ENSP00000507576.1:n.*1134T>C
ENST00000683133.1:c.1606-125T>C	ENSP00000508108.1:n.1606-125T>C
ENST00000683243.1:c.*575-125T>C	ENSP00000507042.1:n.*575-125T>C
ENST00000683463.1:c.*786T>C	ENSP00000507986.1:n.*786T>C
ENST00000683548.1:n.1755T>C
ENST00000683579.1:c.*1320-125T>C	ENSP00000506867.1:n.*1320-125T>C
ENST00000683587.1:n.1828T>C
ENST00000683681.1:c.*99+2T>C	ENSP00000508110.1:n.*99+2T>C
ENST00000683735.1:c.*1695T>C	ENSP00000508336.1:n.*1695T>C
ENST00000683853.1:c.*227-125T>C	ENSP00000506834.1:n.*227-125T>C
ENST00000683860.1:c.*417T>C	ENSP00000507179.1:n.*417T>C
ENST00000683884.1:c.*624T>C	ENSP00000507004.1:n.*624T>C
ENST00000684041.1:c.*554+2T>C	ENSP00000508382.1:n.*554+2T>C
ENST00000684125.1:c.*82-125T>C	ENSP00000507320.1:n.*82-125T>C
ENST00000684203.1:n.3746T>C
ENST00000684231.1:c.*832-125T>C	ENSP00000507748.1:n.*832-125T>C
ENST00000684263.1:c.*921T>C	ENSP00000508369.1:n.*921T>C
ENST00000684305.1:c.1870-125T>C	ENSP00000506819.1:n.1870-125T>C
ENST00000684415.1:c.*848T>C	ENSP00000507227.1:n.*848T>C
ENST00000684520.1:c.*556T>C	ENSP00000506826.1:n.*556T>C
ENST00000684602.1:c.*1088-125T>C	ENSP00000507996.1:n.*1088-125T>C
ENST00000684667.1:c.1753-125T>C	ENSP00000507003.1:n.1753-125T>C
ENST00000268097.10:c.1422-125T>C MANE Select	ENSP00000268097.6:n.1422-125T>C
ENST00000268097.9:c.1422-125T>C	ENSP00000268097.5:n.1422-125T>C
ENST00000379915.4:c.504-125T>C	ENSP00000478716.1:n.504-125T>C
ENST00000564677.5:n.213+2T>C
ENST00000565873.1:n.208T>C
ENST00000566304.5:c.1455-125T>C	ENSP00000455114.1:n.1455-125T>C
ENST00000567027.5:c.1037-125T>C
ENST00000567159.5:c.1422-125T>C	ENSP00000456489.1:n.1422-125T>C
ENST00000567411.5:c.*943-125T>C	ENSP00000455545.1:n.*943-125T>C
ENST00000568777.5:n.6642-125T>C
ENST00000569116.1:n.128+2T>C
NM_000520.4:c.1422-125T>C	NP_000511.2:n.1422-125T>C
NM_000520.5:c.1422-125T>C	NP_000511.2:n.1422-125T>C
NM_001318825.1:c.1455-125T>C	NP_001305754.1:n.1455-125T>C
NR_134869.1:n.1666-125T>C
NM_000520.6:c.1422-125T>C MANE Select	NP_000511.2:n.1422-125T>C
NM_001318825.2:c.1455-125T>C	NP_001305754.1:n.1455-125T>C
NR_134869.2:n.1207-125T>C
NR_134869.3:n.1207-125T>C