Canonical Allele Identifier: CA360063048
Gene: HEXB HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.73985242C>A (hg19) chr5:g.74689417C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74689417C>A , CM000667.2:g.74689417C>A GRCh38
NC_000005.9:g.73985242C>A , CM000667.1:g.73985242C>A GRCh37
NC_000005.8:g.74020998C>A NCBI36
NG_009770.1:g.9274C>A
NG_009770.2:g.54395C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.389C>A MANE Select ENSP00000261416.7:p.Ser130Ter
ENST00000261416.11:c.389C>A ENSP00000261416.7:p.Ser130Ter
ENST00000511181.5:c.-287C>A ENSP00000426285.1:n.-287C>A
ENST00000513079.5:n.454C>A
ENST00000515528.1:n.444C>A
NM_000521.3:c.389C>A NP_000512.1:p.Ser130Ter
NM_001292004.1:c.-287C>A NP_001278933.1:n.-287C>A
NM_000521.4:c.389C>A MANE Select NP_000512.2:p.Ser130Ter
NM_001292004.2:c.-287C>A NP_001278933.1:n.-287C>A
Search 100 bp 5'
Search 100 bp 3'