Canonical Allele Identifier: CA393058849

Gene: HEXA

Linked Data

• gnomAD v4: 15-72345530-G-A
• MyVariant Identifiers: chr15:g.72637871G>A (hg19) ; chr15:g.72345530G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345530G>A , CM000677.2:g.72345530G>A	GRCh38
NC_000015.9:g.72637871G>A , CM000677.1:g.72637871G>A	GRCh37
NC_000015.8:g.70424925G>A	NCBI36
NG_009017.1:g.35650C>T
NG_009017.2:g.35650C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*102C>T	ENSP00000457521.2:n.*102C>T
ENST00000682061.1:c.*1788C>T	ENSP00000508316.1:n.*1788C>T
ENST00000682064.1:n.1669C>T
ENST00000682177.1:c.1485C>T	ENSP00000507409.1:n.1485C>T
ENST00000682235.1:n.1465C>T
ENST00000682461.1:c.1548C>T	ENSP00000507308.1:n.1548C>T
ENST00000682653.1:n.2446C>T
ENST00000682657.1:c.*1279C>T	ENSP00000507753.1:n.*1279C>T
ENST00000682721.1:c.*1245C>T	ENSP00000507535.1:n.*1245C>T
ENST00000682843.1:c.*1083C>T	ENSP00000508173.1:n.*1083C>T
ENST00000683003.1:c.*1279C>T	ENSP00000507576.1:n.*1279C>T
ENST00000683133.1:c.1626C>T	ENSP00000508108.1:n.1626C>T
ENST00000683243.1:c.*595C>T	ENSP00000507042.1:n.*595C>T
ENST00000683463.1:c.*931C>T	ENSP00000507986.1:n.*931C>T
ENST00000683548.1:n.1900C>T
ENST00000683579.1:c.*1340C>T	ENSP00000506867.1:n.*1340C>T
ENST00000683587.1:n.1973C>T
ENST00000683681.1:c.*120C>T	ENSP00000508110.1:n.*120C>T
ENST00000683735.1:c.*1840C>T	ENSP00000508336.1:n.*1840C>T
ENST00000683853.1:c.*247C>T	ENSP00000506834.1:n.*247C>T
ENST00000683860.1:c.*562C>T	ENSP00000507179.1:n.*562C>T
ENST00000683884.1:c.*769C>T	ENSP00000507004.1:n.*769C>T
ENST00000684041.1:c.*575C>T	ENSP00000508382.1:n.*575C>T
ENST00000684125.1:c.*102C>T	ENSP00000507320.1:n.*102C>T
ENST00000684203.1:n.3891C>T
ENST00000684231.1:c.*852C>T	ENSP00000507748.1:n.*852C>T
ENST00000684263.1:c.*1066C>T	ENSP00000508369.1:n.*1066C>T
ENST00000684305.1:c.1890C>T	ENSP00000506819.1:n.1890C>T
ENST00000684415.1:c.*993C>T	ENSP00000507227.1:n.*993C>T
ENST00000684520.1:c.*701C>T	ENSP00000506826.1:n.*701C>T
ENST00000684602.1:c.*1108C>T	ENSP00000507996.1:n.*1108C>T
ENST00000684667.1:c.1773C>T	ENSP00000507003.1:n.1773C>T
ENST00000268097.10:c.1442C>T MANE Select	ENSP00000268097.6:p.Ala481Val
ENST00000268097.9:c.1442C>T	ENSP00000268097.5:p.Ala481Val
ENST00000379915.4:c.524C>T	ENSP00000478716.1:p.Ala175Val
ENST00000564677.5:n.234C>T
ENST00000565873.1:n.353C>T
ENST00000566304.5:c.1475C>T	ENSP00000455114.1:p.Ala492Val
ENST00000567027.5:c.1057C>T
ENST00000567159.5:c.1442C>T	ENSP00000456489.1:p.Ala481Val
ENST00000567411.5:c.*963C>T	ENSP00000455545.1:n.*963C>T
ENST00000568777.5:n.6662C>T
ENST00000569116.1:n.149C>T
NM_000520.4:c.1442C>T	NP_000511.2:p.Ala481Val
NM_000520.5:c.1442C>T	NP_000511.2:p.Ala481Val
NM_001318825.1:c.1475C>T	NP_001305754.1:p.Ala492Val
NR_134869.1:n.1686C>T
NM_000520.6:c.1442C>T MANE Select	NP_000511.2:p.Ala481Val
NM_001318825.2:c.1475C>T	NP_001305754.1:p.Ala492Val
NR_134869.2:n.1227C>T
NR_134869.3:n.1227C>T