Canonical Allele Identifier: CA444848887

Gene: HEXB

Linked Data

• MyVariant Identifiers: chr5:g.74014636A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74718811A>T , CM000667.2:g.74718811A>T	GRCh38
NC_000005.9:g.74014636A>T , CM000667.1:g.74014636A>T	GRCh37
NC_000005.8:g.74050392A>T	NCBI36
NG_009770.1:g.38668A>T
NG_009770.2:g.83789A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261416.12:c.1257A>T MANE Select	ENSP00000261416.7:p.Thr419=
ENST00000261416.11:c.1257A>T	ENSP00000261416.7:p.Thr419=
ENST00000503312.5:c.133A>T
ENST00000504459.5:n.454A>T
ENST00000511181.5:c.582A>T	ENSP00000426285.1:p.Thr194=
ENST00000513336.5:c.193A>T
ENST00000513539.1:n.74-98A>T
NM_000521.3:c.1257A>T	NP_000512.1:p.Thr419=
NM_001292004.1:c.582A>T	NP_001278933.1:p.Thr194=
NM_000521.4:c.1257A>T MANE Select	NP_000512.2:p.Thr419=
NM_001292004.2:c.582A>T	NP_001278933.1:p.Thr194=