Canonical Allele Identifier: CA360070250

Gene: HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74718841T>G , CM000667.2:g.74718841T>G	GRCh38
NC_000005.9:g.74014666T>G , CM000667.1:g.74014666T>G	GRCh37
NC_000005.8:g.74050422T>G	NCBI36
NG_009770.1:g.38698T>G
NG_009770.2:g.83819T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000521.4:c.1287T>G MANE Select	NP_000512.2:p.Tyr429Ter
ENST00000261416.12:c.1287T>G MANE Select	ENSP00000261416.7:p.Tyr429Ter
NM_000521.3:c.1287T>G	NP_000512.1:p.Tyr429Ter
NM_001292004.1:c.612T>G	NP_001278933.1:p.Tyr204Ter
NM_001292004.2:c.612T>G	NP_001278933.1:p.Tyr204Ter
ENST00000261416.11:c.1287T>G	ENSP00000261416.7:p.Tyr429Ter
ENST00000503312.5:c.163T>G
ENST00000504459.5:n.484T>G
ENST00000511181.5:c.612T>G	ENSP00000426285.1:p.Tyr204Ter
ENST00000513336.5:c.223T>G
ENST00000513539.1:n.74-68T>G