Canonical Allele Identifier: CA360063044

Gene: HEXB

Linked Data

• MyVariant Identifiers: chr5:g.73985239T>G (hg19) ; chr5:g.74689414T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74689414T>G , CM000667.2:g.74689414T>G	GRCh38
NC_000005.9:g.73985239T>G , CM000667.1:g.73985239T>G	GRCh37
NC_000005.8:g.74020995T>G	NCBI36
NG_009770.1:g.9271T>G
NG_009770.2:g.54392T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261416.12:c.386T>G MANE Select	ENSP00000261416.7:p.Val129Gly
ENST00000261416.11:c.386T>G	ENSP00000261416.7:p.Val129Gly
ENST00000511181.5:c.-290T>G	ENSP00000426285.1:n.-290T>G
ENST00000513079.5:n.451T>G
ENST00000515528.1:n.441T>G
NM_000521.3:c.386T>G	NP_000512.1:p.Val129Gly
NM_001292004.1:c.-290T>G	NP_001278933.1:n.-290T>G
NM_000521.4:c.386T>G MANE Select	NP_000512.2:p.Val129Gly
NM_001292004.2:c.-290T>G	NP_001278933.1:n.-290T>G