Canonical Allele Identifier: CA360071502

Gene: HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74720712T>G , CM000667.2:g.74720712T>G	GRCh38
NC_000005.9:g.74016537T>G , CM000667.1:g.74016537T>G	GRCh37
NC_000005.8:g.74052293T>G	NCBI36
NG_009770.1:g.40569T>G
NG_011531.1:g.51506A>C
NG_009770.2:g.85690T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000521.4:c.1578T>G MANE Select	NP_000512.2:p.Tyr526Ter
ENST00000261416.12:c.1578T>G MANE Select	ENSP00000261416.7:p.Tyr526Ter
NM_000521.3:c.1578T>G	NP_000512.1:p.Tyr526Ter
NM_001292004.1:c.903T>G	NP_001278933.1:p.Tyr301Ter
NM_001292004.2:c.903T>G	NP_001278933.1:p.Tyr301Ter
ENST00000261416.11:c.1578T>G	ENSP00000261416.7:p.Tyr526Ter
ENST00000503312.5:c.454T>G
ENST00000504459.5:n.775T>G
ENST00000505859.1:c.101T>G
ENST00000509579.1:c.15T>G	ENSP00000424939.1:p.Tyr5Ter
ENST00000511181.5:c.903T>G	ENSP00000426285.1:p.Tyr301Ter
ENST00000513336.5:c.514T>G
ENST00000513539.1:n.297T>G