Canonical Allele Identifier: CA360063036

Gene: HEXB

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261416.12:c.382C>T MANE Select	ENSP00000261416.7:p.Leu128Phe
ENST00000261416.11:c.382C>T	ENSP00000261416.7:p.Leu128Phe
ENST00000511181.5:c.-294C>T	ENSP00000426285.1:n.-294C>T
ENST00000513079.5:n.447C>T
ENST00000515528.1:n.437C>T
NM_000521.3:c.382C>T	NP_000512.1:p.Leu128Phe
NM_001292004.1:c.-294C>T	NP_001278933.1:n.-294C>T
NM_000521.4:c.382C>T MANE Select	NP_000512.2:p.Leu128Phe
NM_001292004.2:c.-294C>T	NP_001278933.1:n.-294C>T