Canonical Allele Identifier: CA393058865

Gene: HEXA

Linked Data

• COSMIC: COSM6015860
• MyVariant Identifiers: chr15:g.72637877G>A (hg19) ; chr15:g.72345536G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345536G>A , CM000677.2:g.72345536G>A	GRCh38
NC_000015.9:g.72637877G>A , CM000677.1:g.72637877G>A	GRCh37
NC_000015.8:g.70424931G>A	NCBI36
NG_009017.1:g.35644C>T
NG_009017.2:g.35644C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*96C>T	ENSP00000457521.2:n.*96C>T
ENST00000682061.1:c.*1782C>T	ENSP00000508316.1:n.*1782C>T
ENST00000682064.1:n.1663C>T
ENST00000682177.1:c.1479C>T	ENSP00000507409.1:n.1479C>T
ENST00000682235.1:n.1459C>T
ENST00000682461.1:c.1542C>T	ENSP00000507308.1:n.1542C>T
ENST00000682653.1:n.2440C>T
ENST00000682657.1:c.*1273C>T	ENSP00000507753.1:n.*1273C>T
ENST00000682721.1:c.*1239C>T	ENSP00000507535.1:n.*1239C>T
ENST00000682843.1:c.*1077C>T	ENSP00000508173.1:n.*1077C>T
ENST00000683003.1:c.*1273C>T	ENSP00000507576.1:n.*1273C>T
ENST00000683133.1:c.1620C>T	ENSP00000508108.1:n.1620C>T
ENST00000683243.1:c.*589C>T	ENSP00000507042.1:n.*589C>T
ENST00000683463.1:c.*925C>T	ENSP00000507986.1:n.*925C>T
ENST00000683548.1:n.1894C>T
ENST00000683579.1:c.*1334C>T	ENSP00000506867.1:n.*1334C>T
ENST00000683587.1:n.1967C>T
ENST00000683681.1:c.*114C>T	ENSP00000508110.1:n.*114C>T
ENST00000683735.1:c.*1834C>T	ENSP00000508336.1:n.*1834C>T
ENST00000683853.1:c.*241C>T	ENSP00000506834.1:n.*241C>T
ENST00000683860.1:c.*556C>T	ENSP00000507179.1:n.*556C>T
ENST00000683884.1:c.*763C>T	ENSP00000507004.1:n.*763C>T
ENST00000684041.1:c.*569C>T	ENSP00000508382.1:n.*569C>T
ENST00000684125.1:c.*96C>T	ENSP00000507320.1:n.*96C>T
ENST00000684203.1:n.3885C>T
ENST00000684231.1:c.*846C>T	ENSP00000507748.1:n.*846C>T
ENST00000684263.1:c.*1060C>T	ENSP00000508369.1:n.*1060C>T
ENST00000684305.1:c.1884C>T	ENSP00000506819.1:n.1884C>T
ENST00000684415.1:c.*987C>T	ENSP00000507227.1:n.*987C>T
ENST00000684520.1:c.*695C>T	ENSP00000506826.1:n.*695C>T
ENST00000684602.1:c.*1102C>T	ENSP00000507996.1:n.*1102C>T
ENST00000684667.1:c.1767C>T	ENSP00000507003.1:n.1767C>T
ENST00000268097.10:c.1436C>T MANE Select	ENSP00000268097.6:p.Ala479Val
ENST00000268097.9:c.1436C>T	ENSP00000268097.5:p.Ala479Val
ENST00000379915.4:c.518C>T	ENSP00000478716.1:p.Ala173Val
ENST00000564677.5:n.228C>T
ENST00000565873.1:n.347C>T
ENST00000566304.5:c.1469C>T	ENSP00000455114.1:p.Ala490Val
ENST00000567027.5:c.1051C>T
ENST00000567159.5:c.1436C>T	ENSP00000456489.1:p.Ala479Val
ENST00000567411.5:c.*957C>T	ENSP00000455545.1:n.*957C>T
ENST00000568777.5:n.6656C>T
ENST00000569116.1:n.143C>T
NM_000520.4:c.1436C>T	NP_000511.2:p.Ala479Val
NM_000520.5:c.1436C>T	NP_000511.2:p.Ala479Val
NM_001318825.1:c.1469C>T	NP_001305754.1:p.Ala490Val
NR_134869.1:n.1680C>T
NM_000520.6:c.1436C>T MANE Select	NP_000511.2:p.Ala479Val
NM_001318825.2:c.1469C>T	NP_001305754.1:p.Ala490Val
NR_134869.2:n.1221C>T
NR_134869.3:n.1221C>T