Canonical Allele Identifier: CA360071979

Gene: HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74721149G>T , CM000667.2:g.74721149G>T	GRCh38
NC_000005.9:g.74016974G>T , CM000667.1:g.74016974G>T	GRCh37
NC_000005.8:g.74052730G>T	NCBI36
NG_009770.1:g.41006G>T
NG_011531.1:g.51069C>A
NG_009770.2:g.86127G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000521.4:c.1645G>T MANE Select	NP_000512.2:p.Gly549Ter
ENST00000261416.12:c.1645G>T MANE Select	ENSP00000261416.7:p.Gly549Ter
NM_000521.3:c.1645G>T	NP_000512.1:p.Gly549Ter
NM_001292004.1:c.970G>T	NP_001278933.1:p.Gly324Ter
NM_001292004.2:c.970G>T	NP_001278933.1:p.Gly324Ter
ENST00000261416.11:c.1645G>T	ENSP00000261416.7:p.Gly549Ter
ENST00000503312.5:c.490-169G>T
ENST00000505859.1:c.137-169G>T
ENST00000509579.1:c.82G>T	ENSP00000424939.1:p.Gly28Ter
ENST00000511181.5:c.970G>T	ENSP00000426285.1:p.Gly324Ter
ENST00000513336.5:c.581G>T
ENST00000513539.1:n.364G>T
ENST00000513867.1:n.93G>T