Canonical Allele Identifier: CA444851258
Gene: HEXB HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.73985162C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74689337C>T , CM000667.2:g.74689337C>T GRCh38
NC_000005.9:g.73985162C>T , CM000667.1:g.73985162C>T GRCh37
NC_000005.8:g.74020918C>T NCBI36
NG_009770.1:g.9194C>T
NG_009770.2:g.54315C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.309C>T MANE Select ENSP00000261416.7:p.Gly103=
ENST00000261416.11:c.309C>T ENSP00000261416.7:p.Gly103=
ENST00000511181.5:c.-367C>T ENSP00000426285.1:n.-367C>T
ENST00000513079.5:n.374C>T
ENST00000515528.1:n.364C>T
NM_000521.3:c.309C>T NP_000512.1:p.Gly103=
NM_001292004.1:c.-367C>T NP_001278933.1:n.-367C>T
NM_000521.4:c.309C>T MANE Select NP_000512.2:p.Gly103=
NM_001292004.2:c.-367C>T NP_001278933.1:n.-367C>T