Canonical Allele Identifier: CA444849916
Gene: HEXB HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.73981223G>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74685398G>C , CM000667.2:g.74685398G>C GRCh38
NC_000005.9:g.73981223G>C , CM000667.1:g.73981223G>C GRCh37
NC_000005.8:g.74016979G>C NCBI36
NG_009770.1:g.5255G>C
NG_009770.2:g.50376G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.138G>C MANE Select ENSP00000261416.7:p.Pro46=
ENST00000261416.11:c.138G>C ENSP00000261416.7:p.Pro46=
ENST00000511181.5:c.-376-3930G>C ENSP00000426285.1:n.-376-3930G>C
ENST00000513079.5:n.203G>C
ENST00000515528.1:n.193G>C
NM_000521.3:c.138G>C NP_000512.1:p.Pro46=
NM_001292004.1:c.-376-3930G>C NP_001278933.1:n.-376-3930G>C
NM_000521.4:c.138G>C MANE Select NP_000512.2:p.Pro46=
NM_001292004.2:c.-376-3930G>C NP_001278933.1:n.-376-3930G>C
Search 100 bp 5'
Search 100 bp 3'