Canonical Allele Identifier: CA360063047
Gene: HEXB HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.73985241T>A (hg19) chr5:g.74689416T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74689416T>A , CM000667.2:g.74689416T>A GRCh38
NC_000005.9:g.73985241T>A , CM000667.1:g.73985241T>A GRCh37
NC_000005.8:g.74020997T>A NCBI36
NG_009770.1:g.9273T>A
NG_009770.2:g.54394T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.388T>A MANE Select ENSP00000261416.7:p.Ser130Thr
ENST00000261416.11:c.388T>A ENSP00000261416.7:p.Ser130Thr
ENST00000511181.5:c.-288T>A ENSP00000426285.1:n.-288T>A
ENST00000513079.5:n.453T>A
ENST00000515528.1:n.443T>A
NM_000521.3:c.388T>A NP_000512.1:p.Ser130Thr
NM_001292004.1:c.-288T>A NP_001278933.1:n.-288T>A
NM_000521.4:c.388T>A MANE Select NP_000512.2:p.Ser130Thr
NM_001292004.2:c.-288T>A NP_001278933.1:n.-288T>A
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