Canonical Allele Identifier: CA360063035

Gene: HEXB

Linked Data

• MyVariant Identifiers: chr5:g.73985235C>G (hg19) ; chr5:g.74689410C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74689410C>G , CM000667.2:g.74689410C>G	GRCh38
NC_000005.9:g.73985235C>G , CM000667.1:g.73985235C>G	GRCh37
NC_000005.8:g.74020991C>G	NCBI36
NG_009770.1:g.9267C>G
NG_009770.2:g.54388C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261416.12:c.382C>G MANE Select	ENSP00000261416.7:p.Leu128Val
ENST00000261416.11:c.382C>G	ENSP00000261416.7:p.Leu128Val
ENST00000511181.5:c.-294C>G	ENSP00000426285.1:n.-294C>G
ENST00000513079.5:n.447C>G
ENST00000515528.1:n.437C>G
NM_000521.3:c.382C>G	NP_000512.1:p.Leu128Val
NM_001292004.1:c.-294C>G	NP_001278933.1:n.-294C>G
NM_000521.4:c.382C>G MANE Select	NP_000512.2:p.Leu128Val
NM_001292004.2:c.-294C>G	NP_001278933.1:n.-294C>G