Canonical Allele Identifier: CA360062101
Gene: HEXB HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.73981165T>A (hg19) chr5:g.74685340T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74685340T>A , CM000667.2:g.74685340T>A GRCh38
NC_000005.9:g.73981165T>A , CM000667.1:g.73981165T>A GRCh37
NC_000005.8:g.74016921T>A NCBI36
NG_009770.1:g.5197T>A
NG_009770.2:g.50318T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.80T>A MANE Select ENSP00000261416.7:p.Leu27Ter
ENST00000261416.11:c.80T>A ENSP00000261416.7:p.Leu27Ter
ENST00000511181.5:c.-376-3988T>A ENSP00000426285.1:n.-376-3988T>A
ENST00000513079.5:n.145T>A
ENST00000515528.1:n.135T>A
NM_000521.3:c.80T>A NP_000512.1:p.Leu27Ter
NM_001292004.1:c.-376-3988T>A NP_001278933.1:n.-376-3988T>A
NM_000521.4:c.80T>A MANE Select NP_000512.2:p.Leu27Ter
NM_001292004.2:c.-376-3988T>A NP_001278933.1:n.-376-3988T>A
Search 100 bp 5'
Search 100 bp 3'