Canonical Allele Identifier: CA393058900

Gene: HEXA

Linked Data

• MyVariant Identifiers: chr15:g.72637885T>G (hg19) ; chr15:g.72345544T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72345544T>G , CM000677.2:g.72345544T>G	GRCh38
NC_000015.9:g.72637885T>G , CM000677.1:g.72637885T>G	GRCh37
NC_000015.8:g.70424939T>G	NCBI36
NG_009017.1:g.35636A>C
NG_009017.2:g.35636A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.*88A>C	ENSP00000457521.2:n.*88A>C
ENST00000682061.1:c.*1774A>C	ENSP00000508316.1:n.*1774A>C
ENST00000682064.1:n.1655A>C
ENST00000682177.1:c.1471A>C	ENSP00000507409.1:n.1471A>C
ENST00000682235.1:n.1451A>C
ENST00000682461.1:c.1534A>C	ENSP00000507308.1:n.1534A>C
ENST00000682653.1:n.2432A>C
ENST00000682657.1:c.*1265A>C	ENSP00000507753.1:n.*1265A>C
ENST00000682721.1:c.*1231A>C	ENSP00000507535.1:n.*1231A>C
ENST00000682843.1:c.*1069A>C	ENSP00000508173.1:n.*1069A>C
ENST00000683003.1:c.*1265A>C	ENSP00000507576.1:n.*1265A>C
ENST00000683133.1:c.1612A>C	ENSP00000508108.1:n.1612A>C
ENST00000683243.1:c.*581A>C	ENSP00000507042.1:n.*581A>C
ENST00000683463.1:c.*917A>C	ENSP00000507986.1:n.*917A>C
ENST00000683548.1:n.1886A>C
ENST00000683579.1:c.*1326A>C	ENSP00000506867.1:n.*1326A>C
ENST00000683587.1:n.1959A>C
ENST00000683681.1:c.*106A>C	ENSP00000508110.1:n.*106A>C
ENST00000683735.1:c.*1826A>C	ENSP00000508336.1:n.*1826A>C
ENST00000683853.1:c.*233A>C	ENSP00000506834.1:n.*233A>C
ENST00000683860.1:c.*548A>C	ENSP00000507179.1:n.*548A>C
ENST00000683884.1:c.*755A>C	ENSP00000507004.1:n.*755A>C
ENST00000684041.1:c.*561A>C	ENSP00000508382.1:n.*561A>C
ENST00000684125.1:c.*88A>C	ENSP00000507320.1:n.*88A>C
ENST00000684203.1:n.3877A>C
ENST00000684231.1:c.*838A>C	ENSP00000507748.1:n.*838A>C
ENST00000684263.1:c.*1052A>C	ENSP00000508369.1:n.*1052A>C
ENST00000684305.1:c.1876A>C	ENSP00000506819.1:n.1876A>C
ENST00000684415.1:c.*979A>C	ENSP00000507227.1:n.*979A>C
ENST00000684520.1:c.*687A>C	ENSP00000506826.1:n.*687A>C
ENST00000684602.1:c.*1094A>C	ENSP00000507996.1:n.*1094A>C
ENST00000684667.1:c.1759A>C	ENSP00000507003.1:n.1759A>C
ENST00000268097.10:c.1428A>C MANE Select	ENSP00000268097.6:p.Arg476Ser
ENST00000268097.9:c.1428A>C	ENSP00000268097.5:p.Arg476Ser
ENST00000379915.4:c.510A>C	ENSP00000478716.1:p.Arg170Ser
ENST00000564677.5:n.220A>C
ENST00000565873.1:n.339A>C
ENST00000566304.5:c.1461A>C	ENSP00000455114.1:p.Arg487Ser
ENST00000567027.5:c.1043A>C
ENST00000567159.5:c.1428A>C	ENSP00000456489.1:p.Arg476Ser
ENST00000567411.5:c.*949A>C	ENSP00000455545.1:n.*949A>C
ENST00000568777.5:n.6648A>C
ENST00000569116.1:n.135A>C
NM_000520.4:c.1428A>C	NP_000511.2:p.Arg476Ser
NM_000520.5:c.1428A>C	NP_000511.2:p.Arg476Ser
NM_001318825.1:c.1461A>C	NP_001305754.1:p.Arg487Ser
NR_134869.1:n.1672A>C
NM_000520.6:c.1428A>C MANE Select	NP_000511.2:p.Arg476Ser
NM_001318825.2:c.1461A>C	NP_001305754.1:p.Arg487Ser
NR_134869.2:n.1213A>C
NR_134869.3:n.1213A>C