Canonical Allele Identifier: CA444851294
Gene: HEXB HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.73985216A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74689391A>G , CM000667.2:g.74689391A>G GRCh38
NC_000005.9:g.73985216A>G , CM000667.1:g.73985216A>G GRCh37
NC_000005.8:g.74020972A>G NCBI36
NG_009770.1:g.9248A>G
NG_009770.2:g.54369A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261416.12:c.363A>G MANE Select ENSP00000261416.7:p.Lys121=
ENST00000261416.11:c.363A>G ENSP00000261416.7:p.Lys121=
ENST00000511181.5:c.-313A>G ENSP00000426285.1:n.-313A>G
ENST00000513079.5:n.428A>G
ENST00000515528.1:n.418A>G
NM_000521.3:c.363A>G NP_000512.1:p.Lys121=
NM_001292004.1:c.-313A>G NP_001278933.1:n.-313A>G
NM_000521.4:c.363A>G MANE Select NP_000512.2:p.Lys121=
NM_001292004.2:c.-313A>G NP_001278933.1:n.-313A>G